Terminology Server Log

1

Request: 

GET http://tx.fhir.org/r4/metadata?_summary=true HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:1519
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:07:55 GMT
pragma:no-cache
server:nginx
x-request-id:32-575306

{"resourceType" : "CapabilityStatement","id" : "FhirServer","meta" : {"tag" : [{"system" : "http://hl7.org/fhir/v3/ObservationValue","code" : "SUBSETTED","display" : "Subsetted"}]},"url" : "http://tx.fhir.org/r4/metadata","version" : "4.0.1-3.0.0","name" : "FHIR Reference Server Conformance Statement","status" : "active","date" : "2023-09-15T21:07:55.815Z","contact" : [{"telecom" : [{"system" : "other","value" : "http://healthintersections.com.au/"}]}],"kind" : "instance","instantiates" : ["http://hl7.org/fhir/CapabilityStatement/terminology-server"],"software" : {"name" : "Reference Server","version" : "3.0.0","releaseDate" : "2023-06-19T19:50:55.040Z"},"implementation" : {"description" : "FHIR Server running at http://tx.fhir.org/r4","url" : "http://tx.fhir.org/r4"},"fhirVersion" : "4.0.1","format" : ["application/fhir+xml","application/fhir+json"],"rest" : [{"mode" : "server","security" : {"cors" : true},"operation" : [{"name" : "expand","definition" : "http://hl7.org/fhir/OperationDefinition/ValueSet-expand"},{"name" : "lookup","definition" : "http://hl7.org/fhir/OperationDefinition/ValueSet-lookup"},{"name" : "validate-code","definition" : "http://hl7.org/fhir/OperationDefinition/Resource-validate"},{"name" : "translate","definition" : "http://hl7.org/fhir/OperationDefinition/ConceptMap-translate"},{"name" : "closure","definition" : "http://hl7.org/fhir/OperationDefinition/ConceptMap-closure"},{"name" : "versions","definition" : "http://tx.fhir.org/r4/OperationDefinition/fso-versions"}]}]}

2

Request: 

GET http://tx.fhir.org/r4/metadata?mode=terminology HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:74940
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:07:55 GMT
pragma:no-cache
server:nginx
x-request-id:32-575307

{"resourceType" : "TerminologyCapabilities","id" : "FhirServer","url" : "http://tx.fhir.org/r4/metadata","version" : "2.0.0","name" : "FHIR Reference Server Teminology Capability Statement","status" : "active","date" : "2023-09-15T21:07:55.893Z","contact" : [{"telecom" : [{"system" : "other","value" : "http://healthintersections.com.au/"}]}],"description" : "Standard Teminology Capability Statement for the open source Reference FHIR Server provided by Health Intersections","codeSystem" : [{"uri" : "http://cds-hooks.hl7.org/CodeSystem/indicator"},{"uri" : "http://devices.fhir.org/CodeSystem/MDC-concept-status"},{"uri" : "http://devices.fhir.org/CodeSystem/MDC-designation-use"},{"uri" : "http://dicom.nema.org/resources/ontology/DCM"},{"uri" : "http://fdasis.nlm.nih.gov"},{"uri" : "http://fhir.ohdsi.org/CodeSystem/concepts"},{"uri" : "http://healthit.gov/nhin/purposeofuse"},{"uri" : "http://hl7.org/fhir/abstract-types"},{"uri" : "http://hl7.org/fhir/account-status"},{"uri" : "http://hl7.org/fhir/action-cardinality-behavior"},{"uri" : "http://hl7.org/fhir/action-condition-kind"},{"uri" : "http://hl7.org/fhir/action-grouping-behavior"},{"uri" : "http://hl7.org/fhir/action-participant-type"},{"uri" : "http://hl7.org/fhir/action-precheck-behavior"},{"uri" : "http://hl7.org/fhir/action-relationship-type"},{"uri" : "http://hl7.org/fhir/action-required-behavior"},{"uri" : "http://hl7.org/fhir/action-selection-behavior"},{"uri" : "http://hl7.org/fhir/additionalmaterials"},{"uri" : "http://hl7.org/fhir/address-type"},{"uri" : "http://hl7.org/fhir/address-use"},{"uri" : "http://hl7.org/fhir/administrative-gender"},{"uri" : "http://hl7.org/fhir/adverse-event-actuality"},{"uri" : "http://hl7.org/fhir/allergy-intolerance-category"},{"uri" : "http://hl7.org/fhir/allergy-intolerance-criticality"},{"uri" : "http://hl7.org/fhir/allergy-intolerance-type"},{"uri" : "http://hl7.org/fhir/animal-genderstatus"},{"uri" : "http://hl7.org/fhir/animal-species"},{"uri" : "http://hl7.org/fhir/appointmentstatus"},{"uri" : "http://hl7.org/fhir/assert-direction-codes"},{"uri" : "http://hl7.org/fhir/assert-operator-codes"},{"uri" : "http://hl7.org/fhir/assert-response-code-types"},{"uri" : "http://hl7.org/fhir/asset-availability"},{"uri" : "http://hl7.org/fhir/audit-event-action"},{"uri" : "http://hl7.org/fhir/binding-strength"},{"uri" : "http://hl7.org/fhir/bundle-type"},{"uri" : "http://hl7.org/fhir/capability-statement-kind"},{"uri" : "http://hl7.org/fhir/care-plan-activity-status"},{"uri" : "http://hl7.org/fhir/care-team-status"},{"uri" : "http://hl7.org/fhir/chargeitem-status"},{"uri" : "http://hl7.org/fhir/claim-use"},{"uri" : "http://hl7.org/fhir/code-search-support"},{"uri" : "http://hl7.org/fhir/CodeSystem/example"},{"uri" : "http://hl7.org/fhir/CodeSystem/medicationrequest-intent"},{"uri" : "http://hl7.org/fhir/CodeSystem/medicationrequest-status"},{"uri" : "http://hl7.org/fhir/CodeSystem/medication-statement-status"},{"uri" : "http://hl7.org/fhir/CodeSystem/medication-status"},{"uri" : "http://hl7.org/fhir/CodeSystem/status"},{"uri" : "http://hl7.org/fhir/CodeSystem/summary"},{"uri" : "http://hl7.org/fhir/CodeSystem/task-code"},{"uri" : "http://hl7.org/fhir/codesystem-content-mode"},{"uri" : "http://hl7.org/fhir/codesystem-hierarchy-meaning"},{"uri" : "http://hl7.org/fhir/compartment-type"},{"uri" : "http://hl7.org/fhir/composition-attestation-mode"},{"uri" : "http://hl7.org/fhir/composition-status"},{"uri" : "http://hl7.org/fhir/concept-map-equivalence"},{"uri" : "http://hl7.org/fhir/conceptmap-unmapped-mode"},{"uri" : "http://hl7.org/fhir/concept-properties"},{"uri" : "http://hl7.org/fhir/concept-property-type"},{"uri" : "http://hl7.org/fhir/concept-subsumption-outcome"},{"uri" : "http://hl7.org/fhir/conditional-delete-status"},{"uri" : "http://hl7.org/fhir/conditional-read-status"},{"uri" : "http://hl7.org/fhir/consent-data-meaning"},{"uri" : "http://hl7.org/fhir/consentperformer"},{"uri" : "http://hl7.org/fhir/consent-provision-type"},{"uri" : "http://hl7.org/fhir/consent-state-codes"},{"uri" : "http://hl7.org/fhir/constraint-severity"},{"uri" : "http://hl7.org/fhir/contact-point-system"},{"uri" : "http://hl7.org/fhir/contact-point-use"},{"uri" : "http://hl7.org/fhir/contract-action-status"},{"uri" : "http://hl7.org/fhir/contract-asset-context"},{"uri" : "http://hl7.org/fhir/contract-asset-scope"},{"uri" : "http://hl7.org/fhir/contract-asset-subtype"},{"uri" : "http://hl7.org/fhir/contract-asset-type"},{"uri" : "http://hl7.org/fhir/contract-decision-mode"},{"uri" : "http://hl7.org/fhir/contract-definition-subtype"},{"uri" : "http://hl7.org/fhir/contract-definition-type"},{"uri" : "http://hl7.org/fhir/contract-expiration-type"},{"uri" : "http://hl7.org/fhir/contract-legalstate"},{"uri" : "http://hl7.org/fhir/contract-party-role"},{"uri" : "http://hl7.org/fhir/contract-publicationstatus"},{"uri" : "http://hl7.org/fhir/contract-scope"},{"uri" : "http://hl7.org/fhir/contract-security-category"},{"uri" : "http://hl7.org/fhir/contract-security-classification"},{"uri" : "http://hl7.org/fhir/contract-security-control"},{"uri" : "http://hl7.org/fhir/contract-status"},{"uri" : "http://hl7.org/fhir/contributor-type"},{"uri" : "http://hl7.org/fhir/data-types"},{"uri" : "http://hl7.org/fhir/days-of-week"},{"uri" : "http://hl7.org/fhir/definition-resource-types"},{"uri" : "http://hl7.org/fhir/detectedissue-severity"},{"uri" : "http://hl7.org/fhir/device-action"},{"uri" : "http://hl7.org/fhir/device-definition-status"},{"uri" : "http://hl7.org/fhir/device-nametype"},{"uri" : "http://hl7.org/fhir/device-statement-status"},{"uri" : "http://hl7.org/fhir/device-status"},{"uri" : "http://hl7.org/fhir/diagnostic-report-status"},{"uri" : "http://hl7.org/fhir/discriminator-type"},{"uri" : "http://hl7.org/fhir/document-mode"},{"uri" : "http://hl7.org/fhir/document-reference-status"},{"uri" : "http://hl7.org/fhir/document-relationship-type"},{"uri" : "http://hl7.org/fhir/eligibilityrequest-purpose"},{"uri" : "http://hl7.org/fhir/eligibilityresponse-purpose"},{"uri" : "http://hl7.org/fhir/encounter-location-status"},{"uri" : "http://hl7.org/fhir/encounter-status"},{"uri" : "http://hl7.org/fhir/endpoint-status"},{"uri" : "http://hl7.org/fhir/episode-of-care-status"},{"uri" : "http://hl7.org/fhir/event-capability-mode"},{"uri" : "http://hl7.org/fhir/event-resource-types"},{"uri" : "http://hl7.org/fhir/event-status"},{"uri" : "http://hl7.org/fhir/event-timing"},{"uri" : "http://hl7.org/fhir/examplescenario-actor-type"},{"uri" : "http://hl7.org/fhir/ex-claimitemtype"},{"uri" : "http://hl7.org/fhir/ex-fdi"},{"uri" : "http://hl7.org/fhir/ex-onsettype"},{"uri" : "http://hl7.org/fhir/ex-oralprostho"},{"uri" : "http://hl7.org/fhir/ex-pharmaservice"},{"uri" : "http://hl7.org/fhir/explanationofbenefit-status"},{"uri" : "http://hl7.org/fhir/exposure-state"},{"uri" : "http://hl7.org/fhir/expression-language"},{"uri" : "http://hl7.org/fhir/ex-servicemodifier"},{"uri" : "http://hl7.org/fhir/ex-serviceproduct"},{"uri" : "http://hl7.org/fhir/extension-context-type"},{"uri" : "http://hl7.org/fhir/extra-activity-type"},{"uri" : "http://hl7.org/fhir/ex-udi"},{"uri" : "http://hl7.org/fhir/feeding-device"},{"uri" : "http://hl7.org/fhir/FHIR-version"},{"uri" : "http://hl7.org/fhir/filter-operator"},{"uri" : "http://hl7.org/fhir/flag-priority-code"},{"uri" : "http://hl7.org/fhir/flag-status"},{"uri" : "http://hl7.org/fhir/fm-conditions"},{"uri" : "http://hl7.org/fhir/fm-status"},{"uri" : "http://hl7.org/fhir/gender-identity"},{"uri" : "http://hl7.org/fhir/goal-status"},{"uri" : "http://hl7.org/fhir/goal-status-reason"},{"uri" : "http://hl7.org/fhir/graph-compartment-rule"},{"uri" : "http://hl7.org/fhir/graph-compartment-use"},{"uri" : "http://hl7.org/fhir/group-measure"},{"uri" : "http://hl7.org/fhir/group-type"},{"uri" : "http://hl7.org/fhir/guidance-response-status"},{"uri" : "http://hl7.org/fhir/guide-page-generation"},{"uri" : "http://hl7.org/fhir/history-status"},{"uri" : "http://hl7.org/fhir/http-operations"},{"uri" : "http://hl7.org/fhir/http-verb"},{"uri" : "http://hl7.org/fhir/identifier-use"},{"uri" : "http://hl7.org/fhir/identity-assuranceLevel"},{"uri" : "http://hl7.org/fhir/imagingstudy-status"},{"uri" : "http://hl7.org/fhir/intervention"},{"uri" : "http://hl7.org/fhir/invoice-priceComponentType"},{"uri" : "http://hl7.org/fhir/invoice-status"},{"uri" : "http://hl7.org/fhir/issue-severity"},{"uri" : "http://hl7.org/fhir/issue-type"},{"uri" : "http://hl7.org/fhir/item-type"},{"uri" : "http://hl7.org/fhir/knowledge-resource-types"},{"uri" : "http://hl7.org/fhir/language-preference-type"},{"uri" : "http://hl7.org/fhir/linkage-type"},{"uri" : "http://hl7.org/fhir/link-type"},{"uri" : "http://hl7.org/fhir/list-mode"},{"uri" : "http://hl7.org/fhir/list-status"},{"uri" : "http://hl7.org/fhir/location-mode"},{"uri" : "http://hl7.org/fhir/location-status"},{"uri" : "http://hl7.org/fhir/map-context-type"},{"uri" : "http://hl7.org/fhir/map-group-type-mode"},{"uri" : "http://hl7.org/fhir/map-input-mode"},{"uri" : "http://hl7.org/fhir/map-model-mode"},{"uri" : "http://hl7.org/fhir/map-source-list-mode"},{"uri" : "http://hl7.org/fhir/map-target-list-mode"},{"uri" : "http://hl7.org/fhir/map-transform"},{"uri" : "http://hl7.org/fhir/measure-report-status"},{"uri" : "http://hl7.org/fhir/measure-report-type"},{"uri" : "http://hl7.org/fhir/message-events"},{"uri" : "http://hl7.org/fhir/messageheader-response-request"},{"uri" : "http://hl7.org/fhir/message-significance-category"},{"uri" : "http://hl7.org/fhir/metric-calibration-state"},{"uri" : "http://hl7.org/fhir/metric-calibration-type"},{"uri" : "http://hl7.org/fhir/metric-category"},{"uri" : "http://hl7.org/fhir/metric-color"},{"uri" : "http://hl7.org/fhir/metric-operational-status"},{"uri" : "http://hl7.org/fhir/name-use"},{"uri" : "http://hl7.org/fhir/namingsystem-identifier-type"},{"uri" : "http://hl7.org/fhir/namingsystem-type"},{"uri" : "http://hl7.org/fhir/narrative-status"},{"uri" : "http://hl7.org/fhir/network-type"},{"uri" : "http://hl7.org/fhir/note-type"},{"uri" : "http://hl7.org/fhir/observation-range-category"},{"uri" : "http://hl7.org/fhir/observation-status"},{"uri" : "http://hl7.org/fhir/operation-kind"},{"uri" : "http://hl7.org/fhir/operation-parameter-use"},{"uri" : "http://hl7.org/fhir/organization-role"},{"uri" : "http://hl7.org/fhir/orientation-type"},{"uri" : "http://hl7.org/fhir/participantrequired"},{"uri" : "http://hl7.org/fhir/participationstatus"},{"uri" : "http://hl7.org/fhir/permitted-data-type"},{"uri" : "http://hl7.org/fhir/practitioner-specialty"},{"uri" : "http://hl7.org/fhir/procedure-progress-status-code"},{"uri" : "http://hl7.org/fhir/product-category"},{"uri" : "http://hl7.org/fhir/product-status"},{"uri" : "http://hl7.org/fhir/product-storage-scale"},{"uri" : "http://hl7.org/fhir/property-representation"},{"uri" : "http://hl7.org/fhir/provenance-entity-role"},{"uri" : "http://hl7.org/fhir/provenance-participant-role"},{"uri" : "http://hl7.org/fhir/publication-status"},{"uri" : "http://hl7.org/fhir/quality-type"},{"uri" : "http://hl7.org/fhir/quantity-comparator"},{"uri" : "http://hl7.org/fhir/questionnaire-answers-status"},{"uri" : "http://hl7.org/fhir/questionnaire-display-category"},{"uri" : "http://hl7.org/fhir/questionnaire-enable-behavior"},{"uri" : "http://hl7.org/fhir/questionnaire-enable-operator"},{"uri" : "http://hl7.org/fhir/questionnaire-item-control"},{"uri" : "http://hl7.org/fhir/reaction-event-severity"},{"uri" : "http://hl7.org/fhir/reason-medication-not-given"},{"uri" : "http://hl7.org/fhir/reference-handling-policy"},{"uri" : "http://hl7.org/fhir/reference-version-rules"},{"uri" : "http://hl7.org/fhir/related-artifact-type"},{"uri" : "http://hl7.org/fhir/relationship"},{"uri" : "http://hl7.org/fhir/relation-type"},{"uri" : "http://hl7.org/fhir/remittance-outcome"},{"uri" : "http://hl7.org/fhir/report-action-result-codes"},{"uri" : "http://hl7.org/fhir/report-participant-type"},{"uri" : "http://hl7.org/fhir/report-result-codes"},{"uri" : "http://hl7.org/fhir/report-status-codes"},{"uri" : "http://hl7.org/fhir/repository-type"},{"uri" : "http://hl7.org/fhir/request-intent"},{"uri" : "http://hl7.org/fhir/request-priority"},{"uri" : "http://hl7.org/fhir/request-resource-types"},{"uri" : "http://hl7.org/fhir/request-status"},{"uri" : "http://hl7.org/fhir/research-element-type"},{"uri" : "http://hl7.org/fhir/research-study-status"},{"uri" : "http://hl7.org/fhir/research-subject-status"},{"uri" : "http://hl7.org/fhir/resource-aggregation-mode"},{"uri" : "http://hl7.org/fhir/resource-slicing-rules"},{"uri" : "http://hl7.org/fhir/resource-status"},{"uri" : "http://hl7.org/fhir/resource-types"},{"uri" : "http://hl7.org/fhir/resource-validation-mode"},{"uri" : "http://hl7.org/fhir/response-code"},{"uri" : "http://hl7.org/fhir/restful-capability-mode"},{"uri" : "http://hl7.org/fhir/restful-interaction"},{"uri" : "http://hl7.org/fhir/search-comparator"},{"uri" : "http://hl7.org/fhir/search-entry-mode"},{"uri" : "http://hl7.org/fhir/search-modifier-code"},{"uri" : "http://hl7.org/fhir/search-param-type"},{"uri" : "http://hl7.org/fhir/search-xpath-usage"},{"uri" : "http://hl7.org/fhir/secondary-finding"},{"uri" : "http://hl7.org/fhir/sequence-type"},{"uri" : "http://hl7.org/fhir/sid/cvx"},{"uri" : "http://hl7.org/fhir/sid/ex-icd-10-procedures"},{"uri" : "http://hl7.org/fhir/sid/icd-10"},{"uri" : "http://hl7.org/fhir/sid/icd-10-cm"},{"uri" : "http://hl7.org/fhir/sid/icd-9-cm"},{"uri" : "http://hl7.org/fhir/sid/mvx"},{"uri" : "http://hl7.org/fhir/sid/ndc"},{"uri" : "http://hl7.org/fhir/slotstatus"},{"uri" : "http://hl7.org/fhir/sort-direction"},{"uri" : "http://hl7.org/fhir/spdx-license"},{"uri" : "http://hl7.org/fhir/specimen-contained-preference"},{"uri" : "http://hl7.org/fhir/specimen-status"},{"uri" : "http://hl7.org/fhir/strand-type"},{"uri" : "http://hl7.org/fhir/structure-definition-kind"},{"uri" : "http://hl7.org/fhir/subscription-status"},{"uri" : "http://hl7.org/fhir/substance-status"},{"uri" : "http://hl7.org/fhir/supplydelivery-status"},{"uri" : "http://hl7.org/fhir/supplyrequest-status"},{"uri" : "http://hl7.org/fhir/task-intent"},{"uri" : "http://hl7.org/fhir/task-status"},{"uri" : "http://hl7.org/fhir/transaction-mode"},{"uri" : "http://hl7.org/fhir/trigger-type"},{"uri" : "http://hl7.org/fhir/type-derivation-rule"},{"uri" : "http://hl7.org/fhir/udi-entry-type"},{"uri" : "http://hl7.org/fhir/unknown-content-code"},{"uri" : "http://hl7.org/fhir/us/core/CodeSystem/careplan-category"},{"uri" : "http://hl7.org/fhir/us/core/CodeSystem/condition-category"},{"uri" : "http://hl7.org/fhir/us/core/CodeSystem/us-core-category"},{"uri" : "http://hl7.org/fhir/us/core/CodeSystem/us-core-documentreference-category"},{"uri" : "http://hl7.org/fhir/us/core/CodeSystem/us-core-provenance-participant-type"},{"uri" : "http://hl7.org/fhir/us/core/CodeSystem/us-core-sex-for-clinical-use"},{"uri" : "http://hl7.org/fhir/uv/sdc/CodeSystem/assemble-expectation"},{"uri" : "http://hl7.org/fhir/uv/sdc/CodeSystem/chf-codes"},{"uri" : "http://hl7.org/fhir/uv/sdc/CodeSystem/collapsible"},{"uri" : "http://hl7.org/fhir/uv/sdc/CodeSystem/CSPHQ9"},{"uri" : "http://hl7.org/fhir/uv/sdc/CodeSystem/entryMode"},{"uri" : "http://hl7.org/fhir/uv/sdc/CodeSystem/launchContext"},{"uri" : "http://hl7.org/fhir/uv/sdc/CodeSystem/questionnaire-answer-constraint"},{"uri" : "http://hl7.org/fhir/uv/sdc/CodeSystem/temp"},{"uri" : "http://hl7.org/fhir/variable-type"},{"uri" : "http://hl7.org/fhir/versioning-policy"},{"uri" : "http://hl7.org/fhir/vision-base-codes"},{"uri" : 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sequence"},{"code":"HP:0100837","display":"Atrophodermia vermiculata"},{"code":"HP:0002673","display":"Coxa valga"},{"code":"HP:0001476","display":"Delayed closure of the anterior fontanelle"},{"code":"HP:0011069","display":"Increased number of teeth"},{"code":"HP:0009879","display":"Simplified gyral pattern"},{"code":"HP:0006315","display":"Single median maxillary incisor"},{"code":"HP:0001194","display":"Abnormalities of placenta or umbilical cord"},{"code":"HP:0100767","display":"Abnormal placenta morphology"},{"code":"HP:0006543","display":"Cardiorespiratory arrest"},{"code":"HP:0003074","display":"Hyperglycemia"},{"code":"HP:0000842","display":"Hyperinsulinemia"},{"code":"HP:0011951","display":"Aspiration pneumonia"},{"code":"HP:0006528","display":"Chronic lung disease"},{"code":"HP:0002383","display":"Encephalitis"},{"code":"HP:0000388","display":"Otitis media"},{"code":"HP:0002530","display":"Axial dystonia"},{"code":"HP:0002780","display":"Bronchomalacia"},{"code":"HP:0008755","display":"Laryngotracheomalacia"},{"code":"HP:0000308","display":"Microretrognathia"},{"code":"HP:0002786","display":"Tracheobronchomalacia"},{"code":"HP:0012389","display":"Appendicular hypotonia"},{"code":"HP:0011323","display":"Cleft of chin"},{"code":"HP:0000417","display":"Slender nose"},{"code":"HP:0001863","display":"Toe clinodactyly"},{"code":"HP:0008386","display":"Aplasia/Hypoplasia of the nails"},{"code":"HP:0006989","display":"Dysplastic corpus callosum"},{"code":"HP:0100954","display":"Open operculum"},{"code":"HP:0004482","display":"Relative macrocephaly"},{"code":"HP:3000033","display":"Abnormal nasopharyngeal adenoid morphology"},{"code":"HP:0009062","display":"Infantile axial hypotonia"},{"code":"HP:0002189","display":"obsolete Excessive daytime sleepiness"},{"code":"HP:0002141","display":"Gait imbalance"},{"code":"HP:0012734","display":"Ketotic hypoglycemia"},{"code":"HP:0005968","display":"Temperature instability"},{"code":"HP:0012538","display":"Gluten intolerance"},{"code":"HP:0000979","display":"Purpura"},{"code":"HP:0001988","display":"Recurrent hypoglycemia"},{"code":"HP:0001488","display":"Bilateral ptosis"},{"code":"HP:0011229","display":"Broad eyebrow"},{"code":"HP:0004440","display":"Coronal craniosynostosis"},{"code":"HP:0004453","display":"Overfolding of the superior helices"},{"code":"HP:0012547","display":"Abnormal involuntary eye movements"},{"code":"HP:0100814","display":"Blue nevus"},{"code":"HP:0010751","display":"Dimple chin"},{"code":"HP:0007087","display":"obsolete Involuntary jerking movements"},{"code":"HP:0012498","display":"Nuchal cord"},{"code":"HP:0002472","display":"Small cerebral cortex"},{"code":"HP:0100307","display":"Cerebellar hemisphere hypoplasia"},{"code":"HP:0002151","display":"Increased serum lactate"},{"code":"HP:0001698","display":"Pericardial effusion"},{"code":"HP:0006903","display":"Congenital peripheral neuropathy"},{"code":"HP:0006895","display":"Lower limb hypertonia"},{"code":"HP:0002744","display":"Bilateral cleft lip and palate"},{"code":"HP:0010664","display":"Fusion of the left and right thalami"},{"code":"HP:0000327","display":"Hypoplasia of the maxilla"},{"code":"HP:0000474","display":"Thickened nuchal skin fold"},{"code":"HP:0000105","display":"Enlarged kidney"},{"code":"HP:0000113","display":"Polycystic kidney dysplasia"},{"code":"HP:0000104","display":"Renal agenesis"},{"code":"HP:0001362","display":"Calvarial skull defect"},{"code":"HP:0008245","display":"Pituitary hypothyroidism"},{"code":"HP:0001552","display":"Barrel-shaped chest"},{"code":"HP:0006297","display":"Hypoplasia of dental enamel"},{"code":"HP:0100023","display":"Recurrent hand flapping"},{"code":"HP:0005518","display":"Increased mean corpuscular volume"},{"code":"HP:0012418","display":"Hypoxemia"},{"code":"HP:0100259","display":"Postaxial polydactyly"},{"code":"HP:0010814","display":"Abnormal position of hair whorl"},{"code":"HP:0003764","display":"Nevus"},{"code":"HP:0000445","display":"Wide nose"},{"code":"HP:0010677","display":"Enuresis nocturna"},{"code":"HP:0001510","display":"Growth delay"},{"code":"HP:0012428","display":"Prominent calcaneus"},{"code":"HP:0012471","display":"Thick vermilion border"},{"code":"HP:0007110","display":"Central hypoventilation"},{"code":"HP:0010614","display":"Fibroma"},{"code":"HP:0001034","display":"Hypermelanotic macule"},{"code":"HP:0011365","display":"Patchy hypopigmentation of hair"},{"code":"HP:0001920","display":"Renal artery stenosis"},{"code":"HP:0002828","display":"Multiple joint contractures"},{"code":"HP:0002144","display":"Tethered cord"},{"code":"HP:0010964","display":"Abnormal circulating long-chain fatty-acid concentration"},{"code":"HP:0010536","display":"Central sleep apnea"},{"code":"HP:0011262","display":"Crimped helix"},{"code":"HP:0040079","display":"Irregular dentition"},{"code":"HP:0011481","display":"Abnormal lacrimal duct morphology"},{"code":"HP:0000220","display":"Velopharyngeal insufficiency"},{"code":"HP:0002153","display":"Hyperkalemia"},{"code":"HP:0002148","display":"Hypophosphatemia"},{"code":"HP:0012621","display":"Persistent cloaca"},{"code":"HP:0000867","display":"Secondary hyperparathyroidism"},{"code":"HP:0003762","display":"Uterus didelphys"},{"code":"HP:0100512","display":"Low levels of vitamin D"},{"code":"HP:0012156","display":"Hemophagocytosis"},{"code":"HP:0008209","display":"Premature ovarian insufficiency"},{"code":"HP:0004349","display":"Reduced bone mineral density"},{"code":"HP:0001924","display":"Sideroblastic anemia"},{"code":"HP:0011703","display":"Sinus tachycardia"},{"code":"HP:0010609","display":"Skin tags"},{"code":"HP:0002725","display":"Systemic lupus erythematosus"},{"code":"HP:0003193","display":"Allergic rhinitis"},{"code":"HP:0006896","display":"Hypnopompic hallucinations"},{"code":"HP:0002524","display":"Cataplexy"},{"code":"HP:0005227","display":"Adenomatous colonic polyposis"},{"code":"HP:0012173","display":"Orthostatic tachycardia"},{"code":"HP:0001271","display":"Polyneuropathy"},{"code":"HP:0009120","display":"Aplasia/Hypoplasia involving the sinuses"},{"code":"HP:0000625","display":"Eyelid coloboma"},{"code":"HP:0009754","display":"Fibrous syngnathia"},{"code":"HP:0012478","display":"Temporomandibular joint ankylosis"},{"code":"HP:0001233","display":"2-3 finger syndactyly"},{"code":"HP:0000811","display":"Abnormal external genitalia"},{"code":"HP:0005120","display":"Abnormal cardiac atrium morphology"},{"code":"HP:0008388","display":"Abnormal toenail morphology"},{"code":"HP:0011467","display":"Absent gallbladder"},{"code":"HP:0010760","display":"Absent toe"},{"code":"HP:0001545","display":"Anteriorly placed anus"},{"code":"HP:0001640","display":"Cardiomegaly"},{"code":"HP:0002990","display":"Fibular aplasia"},{"code":"HP:0004443","display":"Lambdoidal craniosynostosis"},{"code":"HP:0008569","display":"Microtia, second degree"},{"code":"HP:0006277","display":"Pancreatic hyperplasia"},{"code":"HP:0010445","display":"Primum atrial septal defect"},{"code":"HP:0011640","display":"Single coronary artery origin"},{"code":"HP:0011608","display":"Type II truncus arteriosus"},{"code":"HP:0011327","display":"Posterior plagiocephaly"},{"code":"HP:0007655","display":"Eversion of lateral third of lower eyelids"},{"code":"HP:0010747","display":"Medial flaring of the eyebrow"},{"code":"HP:0005957","display":"Breathing dysregulation"},{"code":"HP:0000992","display":"Cutaneous photosensitivity"},{"code":"HP:0011995","display":"Atrial septal dilatation"},{"code":"HP:0000377","display":"Abnormality of the pinna"},{"code":"HP:0011266","display":"Microtia, first degree"},{"code":"HP:0012650","display":"Perisylvian polymicrogyria"},{"code":"HP:0004970","display":"Ascending tubular aorta aneurysm"},{"code":"HP:0008348","display":"Decreased circulating IgG2 level"},{"code":"HP:0012115","display":"Hepatitis"},{"code":"HP:0006979","display":"Sleep-wake cycle disturbance"},{"code":"HP:0008587","display":"Mild neurosensory hearing impairment"},{"code":"HP:0006097","display":"3-4 finger syndactyly"},{"code":"HP:0005263","display":"Gastritis"},{"code":"HP:0200043","display":"Verrucae"},{"code":"HP:0009600","display":"Flexion contracture of thumb"},{"code":"HP:0010818","display":"Generalized tonic seizure"},{"code":"HP:0002599","display":"Head titubation"},{"code":"HP:0002090","display":"Pneumonia"},{"code":"HP:0030423","display":"Splenic cyst"},{"code":"HP:0030187","display":"Titubation"},{"code":"HP:0002375","display":"Hypokinesia"},{"code":"HP:0007166","display":"Paroxysmal dyskinesia"},{"code":"HP:0003077","display":"Hyperlipidemia"},{"code":"HP:0000017","display":"Nocturia"},{"code":"HP:0100555","display":"Asymmetric growth"},{"code":"HP:0011847","display":"Giant cell tumor of bone"},{"code":"HP:0000112","display":"Nephropathy"},{"code":"HP:0000246","display":"Sinusitis"},{"code":"HP:0001012","display":"Multiple lipomas"},{"code":"HP:0000851","display":"Congenital hypothyroidism"},{"code":"HP:0002345","display":"Action tremor"},{"code":"HP:0002677","display":"Small foramen magnum"},{"code":"HP:0011947","display":"Respiratory tract infection"},{"code":"HP:0012151","display":"Hemothorax"},{"code":"HP:0005988","display":"Congenital muscular torticollis"},{"code":"HP:0002329","display":"Drowsiness"},{"code":"HP:0012395","display":"Seasonal allergy"},{"code":"HP:0011679","display":"Tetralogy of Fallot with pulmonary stenosis"},{"code":"HP:0001864","display":"Clinodactyly of the 5th toe"},{"code":"HP:0006934","display":"Congenital nystagmus"},{"code":"HP:0100355","display":"Contractures of the distal interphalangeal joint of the 5th toe"},{"code":"HP:0007894","display":"Hypopigmentation of the fundus"},{"code":"HP:0012377","display":"Hemianopia"},{"code":"HP:0002354","display":"Memory impairment"},{"code":"HP:0000872","display":"Hashimoto thyroiditis"},{"code":"HP:0002519","display":"Hypnagogic hallucinations"},{"code":"HP:0010647","display":"Abnormal elasticity of skin"},{"code":"HP:0002592","display":"Gastric ulcer"},{"code":"HP:0004938","display":"Tortuous cerebral arteries"},{"code":"HP:0004948","display":"Vascular tortuosity"},{"code":"HP:0002516","display":"Increased intracranial pressure"},{"code":"HP:0006460","display":"Increased laxity of ankles"},{"code":"HP:0002317","display":"Unsteady gait"},{"code":"HP:0000182","display":"Movement abnormality of the tongue"},{"code":"HP:0009887","display":"Abnormality of hair pigmentation"},{"code":"HP:0005824","display":"Clinodactyly of the 2nd toe"},{"code":"HP:0002212","display":"Curly hair"},{"code":"HP:0009803","display":"Short phalanx of finger"},{"code":"HP:0000572","display":"Visual loss"},{"code":"HP:0005216","display":"Impaired mastication"},{"code":"HP:0000619","display":"Impaired convergence"},{"code":"HP:0002403","display":"Positive Romberg sign"},{"code":"HP:0008744","display":"Abnormal aryepiglottic fold morphology"},{"code":"HP:0002374","display":"Diminished movement"},{"code":"HP:0008277","display":"Abnormal blood zinc concentration"},{"code":"HP:0012781","display":"Mid-frequency hearing loss"},{"code":"HP:0100758","display":"Gangrene"},{"code":"HP:0003256","display":"Abnormality of the coagulation cascade"},{"code":"HP:0004387","display":"Enterocolitis"},{"code":"HP:0011029","display":"Internal hemorrhage"},{"code":"HP:0011649","display":"Patent ductus arteriosus after premature birth"},{"code":"HP:0012050","display":"Anasarca"},{"code":"HP:0001683","display":"Ectopia cordis"},{"code":"HP:0011682","display":"Perimembranous ventricular septal defect"},{"code":"HP:0010624","display":"Aplastic/hypoplastic toenail"},{"code":"HP:0002705","display":"High, narrow palate"},{"code":"HP:0011340","display":"Incomplete cleft of the upper lip"},{"code":"HP:0011613","display":"Interrupted aortic arch type B"},{"code":"HP:0006167","display":"Prominent proximal interphalangeal joints"},{"code":"HP:0002918","display":"Hypermagnesemia"},{"code":"HP:0011937","display":"Hypoplastic fifth toenail"},{"code":"HP:0001067","display":"Neurofibromas"},{"code":"HP:0011403","display":"Abnormal umbilical cord blood vessels"},{"code":"HP:0003316","display":"Butterfly vertebrae"},{"code":"HP:0002247","display":"Duodenal atresia"},{"code":"HP:0008439","display":"Lumbar hemivertebrae"},{"code":"HP:0011599","display":"Mesocardia"},{"code":"HP:0008467","display":"Thoracic hemivertebrae"},{"code":"HP:0004626","display":"Lumbar scoliosis"},{"code":"HP:0006808","display":"Cerebral hypomyelination"},{"code":"HP:0002926","display":"Abnormality of thyroid physiology"},{"code":"HP:0007970","display":"Congenital ptosis"}]}},{"name":"cache-id","valueId":"1c60316b-3cd4-49c3-ae27-260ce5c62c93"},{"name":"valueSet","resource":{"resourceType":"ValueSet","status":"active","compose":{"inactive":true,"include":[{"system":"http://purl.obolibrary.org/obo/hp.owl","concept":[{"code":"HP:0010772","display":"Anomalous pulmonary venous return"}]}]}}},{"name":"_limit","valueString":"1000"},{"name":"_incomplete","valueString":"true"}]}


Response: 

422
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
connection:keep-alive
content-length:601
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:09:17 GMT
server:nginx
x-request-id:32-575395

{"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "
The code system definition for http://purl.obolibrary.org/obo/hp.owl is a fragment, so this expansion is not permitted unless the expansion parameter \"incomplete-ok\" has a value of \"true\"
"},"issue" : [{"severity" : "error","code" : "invalid","details" : {"text" : "The code system definition for http://purl.obolibrary.org/obo/hp.owl is a fragment, so this expansion is not permitted unless the expansion parameter \"incomplete-ok\" has a value of \"true\""}}]}

7

Request: 

POST http://tx.fhir.org/r4/ValueSet/$expand?_limit=1000&_incomplete=true HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"includeDefinition","valueBoolean":false},{"name":"excludeNested","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","status":"active","compose":{"inactive":true,"include":[{"system":"http://purl.obolibrary.org/obo/mondo.owl","concept":[{"code":"0017705","display":"congenital pulmonary venous return anomaly"},{"code":"0007130","display":"congenital total pulmonary venous return anomaly"}]}]}}},{"name":"_limit","valueString":"1000"},{"name":"_incomplete","valueString":"true"}]}


Response: 

422
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
connection:keep-alive
content-length:389
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:09:18 GMT
server:nginx
x-request-id:32-575398

{"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "
Unable to provide support for code system http://purl.obolibrary.org/obo/mondo.owl
"},"issue" : [{"severity" : "error","code" : "not-supported","details" : {"text" : "Unable to provide support for code system http://purl.obolibrary.org/obo/mondo.owl"}}]}

8

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://example.org/my-dataset/fhir/codesystem/research-encounter-class","code":"survey"}},{"name":"displayLanguage","valueString":"en, en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:638
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:09:22 GMT
last-modified:Fri, 15 Sep 2023 21:09:22 GMT
pragma:no-cache
server:nginx
x-request-id:32-575408

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : false},{"name" : "x-caused-by-unknown-system","valueCanonical" : "http://example.org/my-dataset/fhir/codesystem/research-encounter-class"},{"name" : "message","valueString" : "The CodeSystem http://example.org/my-dataset/fhir/codesystem/research-encounter-class is unknown"},{"name" : "issues","resource" : {"resourceType" : "OperationOutcome","issue" : [{"severity" : "error","code" : "not-found","details" : {"text" : "The CodeSystem http://example.org/my-dataset/fhir/codesystem/research-encounter-class is unknown"},"location" : ["Coding.system"]}]}}]}

9

Request: 

POST http://tx.fhir.org/r4/ValueSet/$expand?_limit=1000&_incomplete=true HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"includeDefinition","valueBoolean":false},{"name":"excludeNested","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","status":"active","compose":{"inactive":true,"include":[{"system":"https://uts.nlm.nih.gov/uts/umls","concept":[{"code":"C99269","display":"Case"},{"code":"C99270","display":"Control"}]}]}}},{"name":"_limit","valueString":"1000"},{"name":"_incomplete","valueString":"true"}]}


Response: 

422
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
connection:keep-alive
content-length:373
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:09:22 GMT
server:nginx
x-request-id:32-575412

{"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "
Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls
"},"issue" : [{"severity" : "error","code" : "not-supported","details" : {"text" : "Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls"}}]}

10

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unitsofmeasure.org","code":"kg/m2"}},{"name":"displayLanguage","valueString":"en, en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:235
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:09:27 GMT
last-modified:Fri, 15 Sep 2023 21:09:27 GMT
pragma:no-cache
server:nginx
x-request-id:32-575420

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://unitsofmeasure.org"},{"name" : "code","valueCode" : "kg/m2"},{"name" : "version","valueString" : "2.0.1"}]}

11

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unitsofmeasure.org","code":"uL"}},{"name":"displayLanguage","valueString":"en, en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:232
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:09:31 GMT
last-modified:Fri, 15 Sep 2023 21:09:31 GMT
pragma:no-cache
server:nginx
x-request-id:32-575429

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://unitsofmeasure.org"},{"name" : "code","valueCode" : "uL"},{"name" : "version","valueString" : "2.0.1"}]}

12

Request: 

POST http://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unstats.un.org/unsd/methods/m49/m49.htm","code":"001"}},{"name":"valueSetMode","valueString":"CHECK_MEMERSHIP_ONLY"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","url":"http://hl7.org/fhir/ValueSet/jurisdiction--2","version":"4.0.1","status":"active","compose":{"include":[{"system":"http://unstats.un.org/unsd/methods/m49/m49.htm","filter":[{"property":"class","op":"=","value":"region"}]}]}}},{"name":"cache-id","valueId":"1c60316b-3cd4-49c3-ae27-260ce5c62c93"},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:254
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:09:40 GMT
last-modified:Fri, 15 Sep 2023 21:09:40 GMT
pragma:no-cache
server:nginx
x-request-id:32-575445

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://unstats.un.org/unsd/methods/m49/m49.htm"},{"name" : "code","valueCode" : "001"},{"name" : "display","valueString" : "World"}]}

13

Request: 

POST http://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unstats.un.org/unsd/methods/m49/m49.htm","code":"001"}},{"name":"valueSetMode","valueString":"NO_MEMBERSHIP_CHECK"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"jurisdiction","meta":{"lastUpdated":"2019-11-01T09:29:23.356+11:00","profile":["http://hl7.org/fhir/StructureDefinition/shareablevalueset"]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-wg","valueCode":"vocab"},{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status","valueCode":"normative"},{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm","valueInteger":5},{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-normative-version","valueCode":"4.0.0"}],"url":"http://hl7.org/fhir/ValueSet/jurisdiction","identifier":[{"system":"urn:ietf:rfc:3986","value":"urn:oid:2.16.840.1.113883.4.642.3.48"}],"version":"4.0.1","name":"Jurisdiction ValueSet","title":"Jurisdiction","status":"active","experimental":false,"date":"2019-11-01T09:29:23+11:00","publisher":"FHIR Project team","contact":[{"telecom":[{"system":"url","value":"http://hl7.org/fhir"}]}],"description":"This value set defines a base set of codes for country, country subdivision and region    for indicating where a resource is intended to be used.   \r\n   \r\n   Note: The codes for countries and country subdivisions are taken from    [ISO 3166](https://www.iso.org/iso-3166-country-codes.html)    while the codes for \"supra-national\" regions are from    [UN Standard country or area codes for statistical use (M49)](http://unstats.un.org/unsd/methods/m49/m49.htm).","compose":{"include":[{"system":"urn:iso:std:iso:3166"},{"system":"urn:iso:std:iso:3166:-2"},{"system":"http://unstats.un.org/unsd/methods/m49/m49.htm","filter":[{"property":"class","op":"=","value":"region"}]}]}}},{"name":"cache-id","valueId":"1c60316b-3cd4-49c3-ae27-260ce5c62c93"},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:254
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:09:40 GMT
last-modified:Fri, 15 Sep 2023 21:09:40 GMT
pragma:no-cache
server:nginx
x-request-id:32-575446

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://unstats.un.org/unsd/methods/m49/m49.htm"},{"name" : "code","valueCode" : "001"},{"name" : "display","valueString" : "World"}]}

14

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unstats.un.org/unsd/methods/m49/m49.htm","code":"001"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:254
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:09:40 GMT
last-modified:Fri, 15 Sep 2023 21:09:40 GMT
pragma:no-cache
server:nginx
x-request-id:32-575447

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://unstats.un.org/unsd/methods/m49/m49.htm"},{"name" : "code","valueCode" : "001"},{"name" : "display","valueString" : "World"}]}

15

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"https://uts.nlm.nih.gov/uts/umls","code":"C2348584"}},{"name":"displayLanguage","valueString":"en, en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:524
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:09:45 GMT
last-modified:Fri, 15 Sep 2023 21:09:45 GMT
pragma:no-cache
server:nginx
x-request-id:32-575451

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : false},{"name" : "x-caused-by-unknown-system","valueCanonical" : "https://uts.nlm.nih.gov/uts/umls"},{"name" : "message","valueString" : "The CodeSystem https://uts.nlm.nih.gov/uts/umls is unknown"},{"name" : "issues","resource" : {"resourceType" : "OperationOutcome","issue" : [{"severity" : "error","code" : "not-found","details" : {"text" : "The CodeSystem https://uts.nlm.nih.gov/uts/umls is unknown"},"location" : ["Coding.system"]}]}}]}

16

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"LP35925-4"}},{"name":"displayLanguage","valueString":"en, en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:229
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:09:45 GMT
last-modified:Fri, 15 Sep 2023 21:09:45 GMT
pragma:no-cache
server:nginx
x-request-id:32-575452

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "LP35925-4"},{"name" : "version","valueString" : "2.74"}]}

17

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://purl.obolibrary.org/obo/mondo.owl","code":"0017705"}},{"name":"displayLanguage","valueString":"en, en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:548
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:09:45 GMT
last-modified:Fri, 15 Sep 2023 21:09:45 GMT
pragma:no-cache
server:nginx
x-request-id:32-575453

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : false},{"name" : "x-caused-by-unknown-system","valueCanonical" : "http://purl.obolibrary.org/obo/mondo.owl"},{"name" : "message","valueString" : "The CodeSystem http://purl.obolibrary.org/obo/mondo.owl is unknown"},{"name" : "issues","resource" : {"resourceType" : "OperationOutcome","issue" : [{"severity" : "error","code" : "not-found","details" : {"text" : "The CodeSystem http://purl.obolibrary.org/obo/mondo.owl is unknown"},"location" : ["Coding.system"]}]}}]}

18

Request: 

POST http://tx.fhir.org/r4/ HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Bundle","type":"batch","entry":[{"resource":{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"LP35925-4"}},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"datatable-mappings-valueset-1","text":{"status":"generated","div":"
This value set includes codes based on the following rules:
Include these codes as defined in https://uts.nlm.nih.gov/uts/umls
Code
Display
C2348584
Subject Unique Identifier
C0079399
Gender
C168843
Age in Days at Enrollment
C1305855
Body mass index
C0872128
case control
Include these codes as defined in http://loinc.org
Code
Display
LP35925-4
Body mass index (BMI)
Include these codes as defined in http://purl.obolibrary.org/obo/hp.owl
Code
Display
HP:0010772
Anomalous pulmonary venous return
Include these codes as defined in http://purl.obolibrary.org/obo/mondo.owl
Code
Display
0017705
congenital pulmonary venous return anomaly
0007130
congenital total pulmonary venous return anomaly
"},"url":"https://nih-ncpi.github.io/ncpi-fhir-ig/ValueSet/datatable-mappings-valueset-1","version":"0.2.0","name":"ExampleStudyTableMappingsVS1","title":"Harmonized ValueSet for data table","status":"active","date":"2023-09-15T21:08:17+00:00","publisher":"NCPI FHIR Working Group","contact":[{"name":"NCPI FHIR Working Group","telecom":[{"system":"url","value":"https://github.com/nih-ncpi"}]},{"name":"Meen Chul Kim","telecom":[{"system":"email","value":"meenchul@d3b.center","use":"work"}]}],"description":"Public codes mapped from example dataset\n\nThe codes used below were chosen purely for example's sake and are in no way an endorsement or suggestion for terms that should be used in a real data-dictionary.","compose":{"include":[{"system":"https://uts.nlm.nih.gov/uts/umls","concept":[{"code":"C2348584","display":"Subject Unique Identifier"},{"code":"C0079399","display":"Gender"},{"code":"C168843","display":"Age in Days at Enrollment"},{"code":"C1305855","display":"Body mass index"},{"code":"C0872128","display":"case control"}]},{"system":"http://loinc.org","concept":[{"code":"LP35925-4","display":"Body mass index (BMI)"}]},{"system":"http://purl.obolibrary.org/obo/hp.owl","concept":[{"code":"HP:0010772","display":"Anomalous pulmonary venous return"}]},{"system":"http://purl.obolibrary.org/obo/mondo.owl","concept":[{"code":"0017705","display":"congenital pulmonary venous return anomaly"},{"code":"0007130","display":"congenital total pulmonary venous return anomaly"}]}]}}},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}},{"name":"displayLanguage","valueString":"en, en-US"},{"name":"default-to-latest-version","valueBoolean":true}]},"request":{"method":"POST","url":"ValueSet/$validate-code"}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:446
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:09:45 GMT
last-modified:Fri, 15 Sep 2023 21:09:45 GMT
pragma:no-cache
server:nginx
x-request-id:32-575455

{"resourceType" : "Bundle","id" : "f620ee80-307a-4f49-a6a2-10816a50cd17","type" : "batch-response","entry" : [{"resource" : {"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "LP35925-4"},{"name" : "version","valueString" : "2.74"}]},"response" : {"status" : "200","etag" : "W/","lastModified" : "2023-09-15T21:09:45.581Z"}}]}

19

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://snomed.info/sct","code":"44807982","display":"Participant in research study"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:1392
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:09:53 GMT
last-modified:Fri, 15 Sep 2023 21:09:53 GMT
pragma:no-cache
server:nginx
x-request-id:32-575466

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : false},{"name" : "message","valueString" : "Unable to find code 44807982 in http://snomed.info/sct (version http://snomed.info/sct/900000000000207008/version/20230901); Unknown Code '44807982' in the system 'http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20230901'; The provided code 'http://snomed.info/sct#44807982' is not in the value set 'http://hl7.org/fhir/ValueSet/@all'"},{"name" : "issues","resource" : {"resourceType" : "OperationOutcome","issue" : [{"severity" : "warning","code" : "not-found","details" : {"text" : "Unknown Code '44807982' in the system 'http://snomed.info/sct'"},"location" : ["Coding.code"]},{"severity" : "information","code" : "code-invalid","details" : {"text" : "Unable to find code 44807982 in http://snomed.info/sct (version http://snomed.info/sct/900000000000207008/version/20230901)"},"location" : ["Coding"]},{"severity" : "error","code" : "code-invalid","details" : {"text" : "Unknown Code '44807982' in the system 'http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20230901'"},"location" : ["Coding.code"]},{"severity" : "error","code" : "code-invalid","details" : {"text" : "The provided code 'http://snomed.info/sct#44807982' is not in the value set 'http://hl7.org/fhir/ValueSet/@all'"},"location" : ["Coding"]}]}}]}

20

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/example-study-data-dictionary-dataset-codesystem-1","code":"demographics","display":"Demographic data"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:731
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:09:59 GMT
last-modified:Fri, 15 Sep 2023 21:09:59 GMT
pragma:no-cache
server:nginx
x-request-id:32-575474

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : false},{"name" : "x-caused-by-unknown-system","valueCanonical" : "https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/example-study-data-dictionary-dataset-codesystem-1"},{"name" : "message","valueString" : "The CodeSystem https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/example-study-data-dictionary-dataset-codesystem-1 is unknown"},{"name" : "issues","resource" : {"resourceType" : "OperationOutcome","issue" : [{"severity" : "error","code" : "not-found","details" : {"text" : "The CodeSystem https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/example-study-data-dictionary-dataset-codesystem-1 is unknown"},"location" : ["Coding.system"]}]}}]}

21

Request: 

POST http://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"81247-9"}},{"name":"valueSetMode","valueString":"CHECK_MEMERSHIP_ONLY"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","url":"http://hl7.org/fhir/ValueSet/report-codes--0","version":"4.0.1","status":"active","compose":{"include":[{"system":"http://loinc.org"}]}}},{"name":"cache-id","valueId":"1c60316b-3cd4-49c3-ae27-260ce5c62c93"},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:309
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:01 GMT
last-modified:Fri, 15 Sep 2023 21:10:01 GMT
pragma:no-cache
server:nginx
x-request-id:32-575479

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "81247-9"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Master HL7 genetic variant reporting panel"}]}

22

Request: 

POST http://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"81247-9","display":"Master HL7 genetic variant reporting panel"}},{"name":"valueSetMode","valueString":"NO_MEMBERSHIP_CHECK"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"report-codes","meta":{"lastUpdated":"2019-11-01T09:29:23.356+11:00","profile":["http://hl7.org/fhir/StructureDefinition/shareablevalueset"]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-wg","valueCode":"oo"}],"url":"http://hl7.org/fhir/ValueSet/report-codes","identifier":[{"system":"urn:ietf:rfc:3986","value":"urn:oid:2.16.840.1.113883.4.642.3.233"}],"version":"4.0.1","name":"LOINCDiagnosticReportCodes","title":"LOINC Diagnostic Report Codes","status":"draft","experimental":false,"date":"2019-11-01T09:29:23+11:00","publisher":"FHIR Project team","contact":[{"telecom":[{"system":"url","value":"http://hl7.org/fhir"}]}],"description":"This value set includes LOINC codes that relate to Diagnostic Observations.","copyright":"This content from LOINC® is copyright © 1995 Regenstrief Institute, Inc. and the LOINC Committee, and available at no cost under the license at http://loinc.org/terms-of-use.","compose":{"include":[{"system":"http://loinc.org"}]}}},{"name":"cache-id","valueId":"1c60316b-3cd4-49c3-ae27-260ce5c62c93"},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:309
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:01 GMT
last-modified:Fri, 15 Sep 2023 21:10:01 GMT
pragma:no-cache
server:nginx
x-request-id:32-575480

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "81247-9"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Master HL7 genetic variant reporting panel"}]}

23

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"81247-9"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:309
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:01 GMT
last-modified:Fri, 15 Sep 2023 21:10:01 GMT
pragma:no-cache
server:nginx
x-request-id:32-575481

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "81247-9"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Master HL7 genetic variant reporting panel"}]}

24

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unitsofmeasure.org","code":"TR"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:274
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:01 GMT
last-modified:Fri, 15 Sep 2023 21:10:01 GMT
pragma:no-cache
server:nginx
x-request-id:32-575482

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://unitsofmeasure.org"},{"name" : "code","valueCode" : "TR"},{"name" : "version","valueString" : "2.0.1"},{"name" : "display","valueString" : "TR"}]}

25

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"69548-6","display":"Genetic variant assessment"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:293
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:01 GMT
last-modified:Fri, 15 Sep 2023 21:10:01 GMT
pragma:no-cache
server:nginx
x-request-id:32-575483

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "69548-6"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Genetic variant assessment"}]}

26

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"LA9633-4","display":"Present"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:275
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:01 GMT
last-modified:Fri, 15 Sep 2023 21:10:01 GMT
pragma:no-cache
server:nginx
x-request-id:32-575484

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "LA9633-4"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Present"}]}

27

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"LA26398-0","display":"Sequencing"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:279
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:01 GMT
last-modified:Fri, 15 Sep 2023 21:10:01 GMT
pragma:no-cache
server:nginx
x-request-id:32-575485

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "LA26398-0"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Sequencing"}]}

28

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"48018-6","display":"Gene studied ID"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:284
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:01 GMT
last-modified:Fri, 15 Sep 2023 21:10:01 GMT
pragma:no-cache
server:nginx
x-request-id:32-575486

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "48018-6"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Gene studied [ID]"}]}

29

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"48001-2","display":"Cytogenetic (chromosome) location"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:300
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:01 GMT
last-modified:Fri, 15 Sep 2023 21:10:01 GMT
pragma:no-cache
server:nginx
x-request-id:32-575487

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "48001-2"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Cytogenetic (chromosome) location"}]}

30

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"69547-8","display":"Genomic ref allele [ID]"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:290
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:01 GMT
last-modified:Fri, 15 Sep 2023 21:10:01 GMT
pragma:no-cache
server:nginx
x-request-id:32-575488

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "69547-8"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Genomic ref allele [ID]"}]}

31

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"69551-0","display":"Genomic alt allele [ID]"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:290
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:01 GMT
last-modified:Fri, 15 Sep 2023 21:10:01 GMT
pragma:no-cache
server:nginx
x-request-id:32-575489

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "69551-0"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Genomic alt allele [ID]"}]}

32

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"53034-5","display":"Allelic state"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:280
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:02 GMT
last-modified:Fri, 15 Sep 2023 21:10:01 GMT
pragma:no-cache
server:nginx
x-request-id:32-575490

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "53034-5"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Allelic state"}]}

33

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"LA6706-1","display":"Heterozygous"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:280
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:02 GMT
last-modified:Fri, 15 Sep 2023 21:10:02 GMT
pragma:no-cache
server:nginx
x-request-id:32-575491

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "LA6706-1"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Heterozygous"}]}

34

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"62374-4","display":"Human reference sequence assembly version"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:308
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:02 GMT
last-modified:Fri, 15 Sep 2023 21:10:02 GMT
pragma:no-cache
server:nginx
x-request-id:32-575493

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "62374-4"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Human reference sequence assembly version"}]}

35

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"LA14029-5","display":"GRCh37"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:275
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:02 GMT
last-modified:Fri, 15 Sep 2023 21:10:02 GMT
pragma:no-cache
server:nginx
x-request-id:32-575494

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "LA14029-5"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "GRCh37"}]}

36

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"51958-7","display":"Transcript reference sequence [ID]"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:301
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:02 GMT
last-modified:Fri, 15 Sep 2023 21:10:02 GMT
pragma:no-cache
server:nginx
x-request-id:32-575495

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "51958-7"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Transcript reference sequence [ID]"}]}

37

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"48004-6","display":"DNA change (c.HGVS)"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:286
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:02 GMT
last-modified:Fri, 15 Sep 2023 21:10:02 GMT
pragma:no-cache
server:nginx
x-request-id:32-575496

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "48004-6"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "DNA change (c.HGVS)"}]}

38

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://varnomen.hgvs.org","code":"c.1640A>G","display":"c.1640A>G"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

422
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
connection:keep-alive
content-length:293
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:02 GMT
server:nginx
x-request-id:32-575499

{"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "
HGVS is not supported at this time
"},"issue" : [{"severity" : "error","code" : "not-supported","details" : {"text" : "HGVS is not supported at this time"}}]}

39

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"53037-8","display":"Genetic variation clinical significance [Imp]"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:312
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:02 GMT
last-modified:Fri, 15 Sep 2023 21:10:02 GMT
pragma:no-cache
server:nginx
x-request-id:32-575500

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "53037-8"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Genetic variation clinical significance [Imp]"}]}

40

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"LA6682-4","display":"Unknown Significance"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:288
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:02 GMT
last-modified:Fri, 15 Sep 2023 21:10:02 GMT
pragma:no-cache
server:nginx
x-request-id:32-575502

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "LA6682-4"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Unknown Significance"}]}

41

Request: 

POST http://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unitsofmeasure.org","code":"kg/m2"}},{"name":"valueSetMode","valueString":"CHECK_MEMERSHIP_ONLY"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","url":"http://hl7.org/fhir/ValueSet/ucum-units--0","version":"4.0.1","status":"active","compose":{"include":[{"system":"http://unitsofmeasure.org"}]}}},{"name":"cache-id","valueId":"1c60316b-3cd4-49c3-ae27-260ce5c62c93"},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:280
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:02 GMT
last-modified:Fri, 15 Sep 2023 21:10:02 GMT
pragma:no-cache
server:nginx
x-request-id:32-575503

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://unitsofmeasure.org"},{"name" : "code","valueCode" : "kg/m2"},{"name" : "version","valueString" : "2.0.1"},{"name" : "display","valueString" : "kg/m2"}]}

42

Request: 

POST http://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unitsofmeasure.org","code":"kg/m2"}},{"name":"valueSetMode","valueString":"NO_MEMBERSHIP_CHECK"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"ucum-units","meta":{"lastUpdated":"2019-11-01T09:29:23.356+11:00","profile":["http://hl7.org/fhir/StructureDefinition/shareablevalueset"]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-wg","valueCode":"fhir"},{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status","valueCode":"trial-use"},{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm","valueInteger":0}],"url":"http://hl7.org/fhir/ValueSet/ucum-units","identifier":[{"system":"urn:ietf:rfc:3986","value":"urn:oid:2.16.840.1.113883.4.642.3.912"}],"version":"4.0.1","name":"UCUMCodes","title":"UCUM Codes","status":"draft","experimental":false,"date":"2019-11-01T09:29:23+11:00","publisher":"FHIR Project team","contact":[{"telecom":[{"system":"url","value":"http://hl7.org/fhir"}]}],"description":"Unified Code for Units of Measure (UCUM). This value set includes all UCUM codes","copyright":"The UCUM codes, UCUM table (regardless of format), and UCUM Specification are copyright © 1999-2009, Regenstrief Institute, Inc. and the Unified Codes for Units of Measures (UCUM) Organization. All rights reserved.","compose":{"include":[{"system":"http://unitsofmeasure.org"}]}}},{"name":"cache-id","valueId":"1c60316b-3cd4-49c3-ae27-260ce5c62c93"},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:280
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:02 GMT
last-modified:Fri, 15 Sep 2023 21:10:02 GMT
pragma:no-cache
server:nginx
x-request-id:32-575504

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://unitsofmeasure.org"},{"name" : "code","valueCode" : "kg/m2"},{"name" : "version","valueString" : "2.0.1"},{"name" : "display","valueString" : "kg/m2"}]}

43

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unitsofmeasure.org","code":"kg/m2"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:280
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:02 GMT
last-modified:Fri, 15 Sep 2023 21:10:02 GMT
pragma:no-cache
server:nginx
x-request-id:32-575505

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://unitsofmeasure.org"},{"name" : "code","valueCode" : "kg/m2"},{"name" : "version","valueString" : "2.0.1"},{"name" : "display","valueString" : "kg/m2"}]}

44

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unitsofmeasure.org","code":"uL"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:274
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:03 GMT
last-modified:Fri, 15 Sep 2023 21:10:03 GMT
pragma:no-cache
server:nginx
x-request-id:32-575506

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://unitsofmeasure.org"},{"name" : "code","valueCode" : "uL"},{"name" : "version","valueString" : "2.0.1"},{"name" : "display","valueString" : "uL"}]}

45

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://snomed.info/sct","code":"129314006","display":"Biopsy - action"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:344
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:03 GMT
last-modified:Fri, 15 Sep 2023 21:10:03 GMT
pragma:no-cache
server:nginx
x-request-id:32-575507

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://snomed.info/sct"},{"name" : "code","valueCode" : "129314006"},{"name" : "version","valueString" : "http://snomed.info/sct/900000000000207008/version/20230901"},{"name" : "display","valueString" : "Biopsy - action"}]}

46

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://snomed.info/sct","code":"21483005","display":"Structure of central nervous system"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:350
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:03 GMT
last-modified:Fri, 15 Sep 2023 21:10:03 GMT
pragma:no-cache
server:nginx
x-request-id:32-575508

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://snomed.info/sct"},{"name" : "code","valueCode" : "21483005"},{"name" : "version","valueString" : "http://snomed.info/sct/900000000000207008/version/20230901"},{"name" : "display","valueString" : "Central nervous system"}]}

47

Request: 

POST http://tx.fhir.org/r4/ValueSet/$expand?_limit=1000&_incomplete=true HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"includeDefinition","valueBoolean":false},{"name":"excludeNested","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","status":"active","compose":{"inactive":true,"include":[{"system":"http://purl.obolibrary.org/obo/mondo.owl"}]}}},{"name":"_limit","valueString":"1000"},{"name":"_incomplete","valueString":"true"}]}


Response: 

422
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
connection:keep-alive
content-length:389
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:31 GMT
server:nginx
x-request-id:32-575532

{"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "
Unable to provide support for code system http://purl.obolibrary.org/obo/mondo.owl
"},"issue" : [{"severity" : "error","code" : "not-supported","details" : {"text" : "Unable to provide support for code system http://purl.obolibrary.org/obo/mondo.owl"}}]}

48

Request: 

POST http://tx.fhir.org/r4/ValueSet/$expand?_limit=1000&_incomplete=true HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"excludeNested","valueBoolean":false},{"name":"incomplete-ok","valueBoolean":true},{"name":"tx-resource","resource":{"resourceType":"CodeSystem","id":"omim","text":{"status":"generated","div":"
This case-sensitive code system https://omim.org/ provides a fragment that includes following codes:
Code
Display
OMIM:613801 
Retinitis pigmentosa-40
OMIM:213300 
Joubert syndrome 1
OMIM:615780 
Retinitis pigmentosa 69
OMIM:613826 
Leber congenital amaurosis 6
OMIM:310200 
Duchenne muscular dystrophy
OMIM:617194 
Lethal congenital contracture syndrome 11
OMIM:105400 
AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1
OMIM:108120 
ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A
OMIM:114300 
ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3
OMIM:115195 
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2
OMIM:115196 
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3; CMH3
OMIM:115197 
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4
OMIM:115200 
CARDIOMYOPATHY, DILATED, 1A; CMD1A
OMIM:117000 
CENTRAL CORE DISEASE OF MUSCLE; CCD
OMIM:117360 
SPINOCEREBELLAR ATAXIA 29; SCA29
OMIM:119530 
OROFACIAL CLEFT 1; OFC1
OMIM:122470 
CORNELIA DE LANGE SYNDROME 1; CDLS1
OMIM:130600 
ELLIPTOCYTOSIS 2; EL2
OMIM:135900 
COFFIN-SIRIS SYNDROME 1; CSS1
OMIM:136140 
FLOATING-HARBOR SYNDROME; FLHS
OMIM:137920 
RENAL CYSTS AND DIABETES SYNDROME; RCAD
OMIM:139090 
GRAY PLATELET SYNDROME; GPS
OMIM:139210 
MYHRE SYNDROME; MYHRS
OMIM:143095 
SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS; SEDCJD
OMIM:143465 
ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD
OMIM:147891 
ISCHIOCOXOPODOPATELLAR SYNDROME WITH OR WITHOUT PULMONARY ARTERIAL HYPERTENSION; ICPPS
OMIM:147920 
KABUKI SYNDROME 1; KABUK1
OMIM:148050 
KBG SYNDROME; KBGS
OMIM:149400 
HYPEREKPLEXIA 1; HKPX1
OMIM:152950 
MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR
OMIM:153670 
BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT; BSSA2
OMIM:154400 
ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1
OMIM:154700 
MARFAN SYNDROME; MFS
OMIM:155310 
VISCERAL MYOPATHY; VSCM
OMIM:158590 
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA; HMN2A
OMIM:158810 
BETHLEM MYOPATHY 1; BTHLM1
OMIM:159550 
ATAXIA-PANCYTOPENIA SYNDROME; ATXPC
OMIM:160150 
MYOPATHY, CENTRONUCLEAR, 1; CNM1
OMIM:160500 
MYOPATHY, DISTAL, 1; MPD1
OMIM:160800 
MYOTONIA CONGENITA, AUTOSOMAL DOMINANT
OMIM:160900 
MYOTONIC DYSTROPHY 1; DM1
OMIM:161800 
NEMALINE MYOPATHY 3; NEM3
OMIM:163950 
NOONAN SYNDROME 1; NS1
OMIM:178110 
CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A; CPSFS1A
OMIM:178500 
PULMONARY FIBROSIS, IDIOPATHIC; IPF
OMIM:180100 
RETINITIS PIGMENTOSA 1; RP1
OMIM:180849 
RUBINSTEIN-TAYBI SYNDROME 1; RSTS1
OMIM:181430 
SCAPULOPERONEAL MYOPATHY, MYH7-RELATED; SPMM
OMIM:182601 
SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4
OMIM:188000 
THROMBOCYTOPENIA 2; THC2
OMIM:191480 
UNCOMBABLE HAIR SYNDROME 1; UHS1
OMIM:203800 
ALSTROM SYNDROME; ALMS
OMIM:204200 
CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3
OMIM:204500 
CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2
OMIM:205100 
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2
OMIM:206900 
MICROPHTHALMIA, SYNDROMIC 3; MCOPS3
OMIM:208900 
ATAXIA-TELANGIECTASIA; AT
OMIM:209850 
AUTISM
OMIM:209900 
BARDET-BIEDL SYNDROME 1; BBS1
OMIM:210000 
BEHR SYNDROME; BEHRS
OMIM:210720 
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; MOPD2
OMIM:210900 
BLOOM SYNDROME; BLM
OMIM:212065 
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A
OMIM:212066 
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa; CDG2A
OMIM:214500 
CHEDIAK-HIGASHI SYNDROME; CHS
OMIM:214800 
CHARGE SYNDROME
OMIM:215500 
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR, 1; CACD1
OMIM:216400 
COCKAYNE SYNDROME A; CSA
OMIM:216550 
COHEN SYNDROME; COH1
OMIM:217080 
JALILI SYNDROME
OMIM:217980 
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE
OMIM:218340 
TEMTAMY SYNDROME; TEMTYS
OMIM:219200 
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A
OMIM:224050 
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1; CAMRQ1
OMIM:224690 
MEIER-GORLIN SYNDROME 1; MGORS1
OMIM:225753 
PONTOCEREBELLAR HYPOPLASIA, TYPE 4; PCH4
OMIM:225790 
PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME; PVHH
OMIM:227650 
FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA
OMIM:229600 
FRUCTOSE INTOLERANCE, HEREDITARY; HFI
OMIM:230000 
FUCOSIDOSIS
OMIM:230500 
GM1-GANGLIOSIDOSIS, TYPE I
OMIM:232300 
GLYCOGEN STORAGE DISEASE II; GSD2
OMIM:232600 
GLYCOGEN STORAGE DISEASE V; GSD5
OMIM:234200 
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1
OMIM:234500 
HARTNUP DISORDER; HND
OMIM:236000 
LYMPHOMA, HODGKIN, CLASSIC; CHL
OMIM:236600 
HYDROCEPHALUS, CONGENITAL, 1; HYC1
OMIM:236792 
L-2-HYDROXYGLUTARIC ACIDURIA; L2HGA
OMIM:243310 
BARAITSER-WINTER SYNDROME 1; BRWS1
OMIM:244450 
KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS
OMIM:245200 
KRABBE DISEASE
OMIM:245359 
missing
OMIM:248200 
STARGARDT DISEASE 1; STGD1
OMIM:248700 
MARDEN-WALKER SYNDROME; MWKS
OMIM:249000 
MECKEL SYNDROME, TYPE 1; MKS1
OMIM:249900 
METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY
OMIM:250100 
METACHROMATIC LEUKODYSTROPHY; MLD
OMIM:250620 
3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY; HIBCHD
OMIM:251200 
MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE; MCPH1
OMIM:251260 
NIJMEGEN BREAKAGE SYNDROME; NBS
OMIM:251280 
DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1; DMJDS1
OMIM:251290 
PSEUDO-TORCH SYNDROME 1; PTORCH1
OMIM:251300 
GALLOWAY-MOWAT SYNDROME 1; GAMOS1
OMIM:252010 
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1; MC1DN1
OMIM:252160 
MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B; MOCODB
OMIM:252920 
MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B
OMIM:253250 
MULIBREY NANISM
OMIM:253600 
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1; LGMDR1
OMIM:253601 
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2; LGMDR2
OMIM:253700 
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5; LGMDR5
OMIM:254090 
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1; UCMD1
OMIM:254110 
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8; LGMDR8
OMIM:254300 
MYASTHENIC SYNDROME, CONGENITAL, 10; CMS10
OMIM:254780 
MYOCLONIC EPILEPSY OF LAFORA
OMIM:254940 
CAREY-FINEMAN-ZITER SYNDROME; CFZS
OMIM:255310 
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD
OMIM:255320 
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
OMIM:255800 
SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1
OMIM:256000 
LEIGH SYNDROME; LS
OMIM:256300 
NEPHROTIC SYNDROME, TYPE 1; NPHS1
OMIM:256600 
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A
OMIM:256700 
NEUROBLASTOMA, SUSCEPTIBILITY TO, 1; NBLST1
OMIM:256730 
CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1
OMIM:256731 
CEROID LIPOFUSCINOSIS, NEURONAL, 5; CLN5
OMIM:256800 
INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA
OMIM:256850 
GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE; GAN1
OMIM:257220 
NIEMANN-PICK DISEASE, TYPE C1; NPC1
OMIM:257320 
LISSENCEPHALY 2; LIS2
OMIM:260400 
SHWACHMAN-DIAMOND SYNDROME 1; SDS1
OMIM:260565 
PEHO SYNDROME; PEHO
OMIM:261630 
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C
OMIM:262500 
LARON SYNDROME
OMIM:263200 
POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD4
OMIM:265000 
MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS
OMIM:266100 
EPILEPSY, PYRIDOXINE-DEPENDENT; EPD
OMIM:266265 
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc; CDG2C
OMIM:266500 
REFSUM DISEASE, CLASSIC
OMIM:266510 
PEROXISOME BIOGENESIS DISORDER 3B; PBD3B
OMIM:268800 
SANDHOFF DISEASE
OMIM:270200 
SJOGREN-LARSSON SYNDROME; SLS
OMIM:270800 
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A
OMIM:271900 
CANAVAN DISEASE
OMIM:272800 
TAY-SACHS DISEASE; TSD
OMIM:273300 
TESTICULAR GERM CELL TUMOR; TGCT
OMIM:274000 
THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR
OMIM:276901 
USHER SYNDROME, TYPE IIA; USH2A
OMIM:277470 
PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A
OMIM:300029 
RETINITIS PIGMENTOSA 3; RP3
OMIM:300067 
LISSENCEPHALY, X-LINKED, 1; LISX1
OMIM:300088 
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9; DEE9
OMIM:300100 
ADRENOLEUKODYSTROPHY; ALD
OMIM:300376 
MUSCULAR DYSTROPHY, BECKER TYPE; BMD
OMIM:300387 
MENTAL RETARDATION, X-LINKED 63; MRX63
OMIM:300476 
CONE-ROD DYSTROPHY, X-LINKED, 3; CORDX3
OMIM:300486 
MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE
OMIM:300495 
AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2
OMIM:300523 
ALLAN-HERNDON-DUDLEY SYNDROME; AHDS
OMIM:300534 
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE; MRXSCJ
OMIM:300695 
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM
OMIM:300749 
MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH
OMIM:300804 
JOUBERT SYNDROME 10; JBTS10
OMIM:300881 
MOVED TO 615777
OMIM:300882 
CORNELIA DE LANGE SYNDROME 5; CDLS5
OMIM:300894 
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5
OMIM:300908 
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
OMIM:300957 
MENTAL RETARDATION, X-LINKED 12; MRX12
OMIM:300958 
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE; MRXSSB
OMIM:300966 
MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33
OMIM:300968 
MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED; MRXS99F
OMIM:300983 
MENTAL RETARDATION, X-LINKED 104; MRX104
OMIM:300986 
MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB
OMIM:301050 
ALPORT SYNDROME 1, X-LINKED; ATS1
OMIM:301310 
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA; ASAT
OMIM:304340 
PETTIGREW SYNDROME; PGS
OMIM:305100 
ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED; XHED
OMIM:308350 
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1; DEE1
OMIM:309500 
RENPENNING SYNDROME 1; RENS1
OMIM:309541 
METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE
OMIM:309580 
MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1
OMIM:310468 
NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE; XRN
OMIM:311070 
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX5
OMIM:313850 
THORACOABDOMINAL SYNDROME; THAS
OMIM:314580 
WIEACKER-WOLFF SYNDROME; WRWF
OMIM:600059 
RETINITIS PIGMENTOSA 13; RP13
OMIM:600105 
RETINITIS PIGMENTOSA 12; RP12
OMIM:600118 
WARBURG MICRO SYNDROME 1; WARBM1
OMIM:600132 
RETINITIS PIGMENTOSA 14; RP14
OMIM:600138 
RETINITIS PIGMENTOSA 11; RP11
OMIM:600143 
CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8
OMIM:600334 
TIBIAL MUSCULAR DYSTROPHY, TARDIVE; TMD
OMIM:600373 
CODAS SYNDROME
OMIM:600618 
ETS VARIANT GENE 6; ETV6
OMIM:600995 
NEPHROTIC SYNDROME, TYPE 2; NPHS2
OMIM:601088 
AYME-GRIPP SYNDROME; AYGRP
OMIM:601414 
RETINITIS PIGMENTOSA 18; RP18
OMIM:601419 
MYOPATHY, MYOFIBRILLAR, 1; MFM1
OMIM:601680 
ARTHROGRYPOSIS, DISTAL, TYPE 2B1; DA2B1
OMIM:601718 
RETINITIS PIGMENTOSA 19; RP19
OMIM:601780 
CEROID LIPOFUSCINOSIS, NEURONAL, 6; CLN6
OMIM:601815 
PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY; PHGDHD
OMIM:601954 
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 7; LGMDR7
OMIM:602482 
AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3
OMIM:602579 
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; CDG1B
OMIM:602772 
RETINITIS PIGMENTOSA 25; RP25
OMIM:603511 
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1; LGMDD1
OMIM:603896 
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM
OMIM:604004 
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1; MLC1
OMIM:604116 
CONE-ROD DYSTROPHY 3; CORD3
OMIM:604273 
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1
OMIM:604286 
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4; LGMDR4
OMIM:604317 
MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2
OMIM:604360 
SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11
OMIM:604387 
NEPHRONOPHTHISIS 3; NPHP3
OMIM:604537 
LEBER CONGENITAL AMAUROSIS 5; LCA5
OMIM:604592 
T CELL IMMUNE REGULATOR 1; TCIRG1
OMIM:605130 
WIEDEMANN-STEINER SYNDROME; WDSTS
OMIM:605355 
NEMALINE MYOPATHY 5; NEM5
OMIM:605407 
SEGAWA SYNDROME, AUTOSOMAL RECESSIVE
OMIM:605637 
MYOPATHY, PROXIMAL, WITH OPHTHALMOPLEGIA; MYPOP
OMIM:605670 
LATE-ONSET RETINAL DEGENERATION; LORD
OMIM:605820 
NONAKA MYOPATHY; NM
OMIM:605899 
GLYCINE ENCEPHALOPATHY; GCE
OMIM:606068 
RETINITIS PIGMENTOSA 28; RP28
OMIM:606170 
GENITOPATELLAR SYNDROME; GTPTS
OMIM:606232 
PHELAN-MCDERMID SYNDROME; PHMDS
OMIM:606777 
GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1
OMIM:606854 
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL; BFPP
OMIM:606966 
NEPHRONOPHTHISIS 4; NPHP4
OMIM:606996 
SENIOR-LOKEN SYNDROME 4; SLSN4
OMIM:607015 
HURLER-SCHEIE SYNDROME
OMIM:607155 
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MDDGC5
OMIM:607196 
MICROCEPHALY, AMISH TYPE; MCPHA
OMIM:607225 
SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING; IAHSP
OMIM:607426 
COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1
OMIM:607432 
LISSENCEPHALY 1; LIS1
OMIM:607483 
THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE); THMD2
OMIM:607595 
MOVED TO 175780
OMIM:607596 
PONTOCEREBELLAR HYPOPLASIA, TYPE 1A; PCH1A
OMIM:607855 
MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A
OMIM:608027 
PONTOCEREBELLAR HYPOPLASIA, TYPE 3; PCH3
OMIM:608091 
JOUBERT SYNDROME 2; JBTS2
OMIM:608099 
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3; LGMDR3
OMIM:608133 
RETINITIS PIGMENTOSA 7; RP7
OMIM:608358 
MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT; MSMA
OMIM:608380 
RETINITIS PIGMENTOSA 26; RP26
OMIM:608393 
MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE; MCPH6
OMIM:608415 
PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION; PERRS
OMIM:608423 
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2; LGMDD2
OMIM:608540 
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K
OMIM:608629 
JOUBERT SYNDROME 3; JBTS3
OMIM:608643 
AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
OMIM:608716 
MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5
OMIM:608804 
LEUKODYSTROPHY, HYPOMYELINATING, 2; HLD2
OMIM:608807 
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10; LGMDR10
OMIM:609033 
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA; AXPC1
OMIM:609056 
SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME; SPDRS
OMIM:609195 
SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE; SPG26
OMIM:609200 
MYOPATHY, MYOFIBRILLAR, 3; MFM3
OMIM:609260 
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A; CMT2A2A
OMIM:609270 
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7; SCAR7
OMIM:609304 
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 3; DEE3
OMIM:609524 
MYOPATHY, MYOFIBRILLAR, 5; MFM5
OMIM:609560 
MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE); MTDPS2
OMIM:609923 
RETINITIS PIGMENTOSA 31; RP31
OMIM:610019 
CATARACT 18; CTRCT18
OMIM:610031 
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7; CDCBM7
OMIM:610127 
CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10
OMIM:610181 
AICARDI-GOUTIERES SYNDROME 2; AGS2
OMIM:610188 
JOUBERT SYNDROME 5; JBTS5
OMIM:610217 
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B; NBIA2B
OMIM:610329 
AICARDI-GOUTIERES SYNDROME 3; AGS3
OMIM:610333 
AICARDI-GOUTIERES SYNDROME 4; AGS4
OMIM:610359 
RETINITIS PIGMENTOSA 33; RP33
OMIM:610443 
KOOLEN-DE VRIES SYNDROME; KDVS
OMIM:610444 
NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3; CSNBAD3
OMIM:610489 
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1
OMIM:610532 
LEUKODYSTROPHY, HYPOMYELINATING, 5; HLD5
OMIM:610688 
JOUBERT SYNDROME 6; JBTS6
OMIM:610725 
NEPHROTIC SYNDROME, TYPE 3; NPHS3
OMIM:610951 
CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7
OMIM:611091 
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5
OMIM:611302 
SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE; SPAX2
OMIM:611307 
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12; LGMDR12
OMIM:611560 
JOUBERT SYNDROME 7; JBTS7
OMIM:611603 
LISSENCEPHALY 3; LIS3
OMIM:611705 
SALIH MYOPATHY; SALMY
OMIM:611721 
COMBINED SAPOSIN DEFICIENCY
OMIM:611726 
EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS; EPM3
OMIM:611755 
LEBER CONGENITAL AMAUROSIS 10; LCA10
OMIM:612015 
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In; CDG1N
OMIM:612095 
RETINITIS PIGMENTOSA 41; RP41
OMIM:612126 
GLUT1 DEFICIENCY SYNDROME 2; GLUT1DS2
OMIM:612285 
JOUBERT SYNDROME 9; JBTS9
OMIM:612337 
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22
OMIM:612370 
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA; HH5
OMIM:612438 
LEUKODYSTROPHY, HYPOMYELINATING, 6; HLD6
OMIM:612528 
DIAMOND-BLACKFAN ANEMIA 5; DBA5
OMIM:612621 
MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5
OMIM:612712 
LEBER CONGENITAL AMAUROSIS 13; LCA13
OMIM:612716 
DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY
OMIM:612780 
SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE; SESAMES
OMIM:612936 
SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50
OMIM:612943 
RETINITIS PIGMENTOSA 42; RP42
OMIM:612951 
LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY
OMIM:613065 
LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL
OMIM:613091 
SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3
OMIM:613155 
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1; MDDGB1
OMIM:613156 
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2; MDDGB2
OMIM:613158 
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2; MDDGC2
OMIM:613192 
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13
OMIM:613205 
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED
OMIM:613216 
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C
OMIM:613217 
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL; DIAR5
OMIM:613402 
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ
OMIM:613428 
RETINITIS PIGMENTOSA 54; RP54
OMIM:613454 
RETT SYNDROME, CONGENITAL VARIANT
OMIM:613550 
NEPHRONOPHTHISIS 11; NPHP11
OMIM:613561 
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA2
OMIM:613587 
OCCULT MACULAR DYSTROPHY; OCMD
OMIM:613612 
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I
OMIM:613660 
CONE-ROD DYSTROPHY 15; CORD15
OMIM:613668 
MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY
OMIM:613680 
BEAULIEU-BOYCOTT-INNES SYNDROME; BBIS
OMIM:613684 
RUBINSTEIN-TAYBI SYNDROME 2; RSTS2
OMIM:613690 
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7; CMH7
OMIM:613706 
NOONAN SYNDROME 7; NS7
OMIM:613722 
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 12; DEE12
OMIM:613731 
RETINITIS PIGMENTOSA 4; RP4
OMIM:613744 
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE; SPG51
OMIM:613750 
RETINITIS PIGMENTOSA 27; RP27
OMIM:613756 
RETINITIS PIGMENTOSA 49; RP49
OMIM:613767 
RETINITIS PIGMENTOSA 45; RP45
OMIM:613794 
RETINITIS PIGMENTOSA 20; RP20
OMIM:613809 
RETINITIS PIGMENTOSA 39; RP39
OMIM:613810 
RETINITIS PIGMENTOSA 43; RP43
OMIM:613811 
PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D
OMIM:613820 
NEPHRONOPHTHISIS 12; NPHP12
OMIM:613835 
LEBER CONGENITAL AMAUROSIS 8; LCA8
OMIM:613861 
RETINITIS PIGMENTOSA 59; RP59
OMIM:613862 
RETINITIS PIGMENTOSA 38; RP38
OMIM:614034 
HEME OXYGENASE 1 DEFICIENCY; HMOX1D
OMIM:614065 
MYOPATHY, DISTAL, 4; MPD4
OMIM:614173 
JOUBERT SYNDROME 13; JBTS13
OMIM:614180 
RETINITIS PIGMENTOSA 61; RP61
OMIM:614181 
RETINITIS PIGMENTOSA 62; RP62
OMIM:614199 
NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES; NPHS5
OMIM:614202 
RAFIQ SYNDROME; RAFQS
OMIM:614225 
WARBURG MICRO SYNDROME 2; WARBM2
OMIM:614254 
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD
OMIM:614255 
NESCAV SYNDROME; NESCAVS
OMIM:614299 
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA; MMDS2
OMIM:614381 
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD8
OMIM:614424 
JOUBERT SYNDROME 14; JBTS14
OMIM:614500 
CONE-ROD DYSTROPHY 16; CORD16
OMIM:614557 
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2; EDSKSCL2
OMIM:614607 
COFFIN-SIRIS SYNDROME 2; CSS2
OMIM:614615 
JOUBERT SYNDROME 17; JBTS17
OMIM:614669 
AURICULOCONDYLAR SYNDROME 2; ARCND2
OMIM:614678 
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B; PCH1B
OMIM:614744 
FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3
OMIM:614753 
SOTOS SYNDROME 2; SOTOS2
OMIM:614831 
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13
OMIM:614833 
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES; MSSP
OMIM:614876 
PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER); PBD8A
OMIM:614877 
PEROXISOME BIOGENESIS DISORDER 8B; PBD8B
OMIM:614932 
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13; COXPD13
OMIM:614945 
DEAFNESS, AUTOSOMAL RECESSIVE 18B; DFNB18B
OMIM:615030 
SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE; SPG56
OMIM:615031 
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE; SPG49
OMIM:615065 
ARTHROGRYPOSIS, DISTAL, TYPE 5D; DA5D
OMIM:615071 
ALAZAMI SYNDROME; ALAZS
OMIM:615095 
MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE; MCPH10
OMIM:615181 
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11
OMIM:615190 
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5; DKCB5
OMIM:615191 
LISSENCEPHALY 5; LIS5
OMIM:615268 
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4; CAMRQ4
OMIM:615286 
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36; MRT36
OMIM:615352 
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14; MDDGC14
OMIM:615411 
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3; CDCBM3
OMIM:615412 
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4; CDCBM4
OMIM:615419 
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1
OMIM:615471 
MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE); MTDPS13
OMIM:615476 
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18; DEE18
OMIM:615485 
BAINBRIDGE-ROPERS SYNDROME; BRPS
OMIM:615502 
MENTAL RETARDATION, AUTOSOMAL DOMINANT 21; MRD21
OMIM:615546 
VAN MALDERGEM SYNDROME 2; VMLDS2
OMIM:615574 
ASPARAGINE SYNTHETASE DEFICIENCY; ASNSD
OMIM:615681 
SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE; SPG62
OMIM:615715 
BONE MARROW FAILURE SYNDROME 2; BMFS2
OMIM:615716 
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4; HPMRS4
OMIM:615760 
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY; MSCCA
OMIM:615763 
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5; CDCBM5
OMIM:615809 
PONTOCEREBELLAR HYPOPLASIA, TYPE 9; PCH9
OMIM:615829 
XIA-GIBBS SYNDROME; XIGIS
OMIM:615834 
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26; MRD26
OMIM:615846 
AICARDI-GOUTIERES SYNDROME 7; AGS7
OMIM:615866 
COFFIN-SIRIS SYNDROME 9; CSS9
OMIM:615909 
DIAMOND-BLACKFAN ANEMIA 13; DBA13
OMIM:615948 
OROFACIODIGITAL SYNDROME XIV; OFD14
OMIM:615959 
MYOPATHY, CENTRONUCLEAR, 5; CNM5
OMIM:615960 
PORETTI-BOLTSHAUSER SYNDROME; PTBHS
OMIM:615973 
CONE-ROD DYSTROPHY 20; CORD20
OMIM:615981 
BARDET-BIEDL SYNDROME 2; BBS2
OMIM:615982 
BARDET-BIEDL SYNDROME 4; BBS4
OMIM:615983 
BARDET-BIEDL SYNDROME 5; BBS5
OMIM:615993 
BARDET-BIEDL SYNDROME 16; BBS16
OMIM:616051 
MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13
OMIM:616056 
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 26; DEE26
OMIM:616081 
PONTOCEREBELLAR HYPOPLASIA, TYPE 1C; PCH1C
OMIM:616094 
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12; MDDGC12
OMIM:616127 
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17; SCAR17
OMIM:616140 
LEUKODYSTROPHY, HYPOMYELINATING, 9; HLD9
OMIM:616155 
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S; CMT2S
OMIM:616171 
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2
OMIM:616199 
POLYGLUCOSAN BODY MYOPATHY 2; PGBM2
OMIM:616211 
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28; DEE28
OMIM:616263 
NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET; IMNEPD
OMIM:616266 
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; CLIFAHDD
OMIM:616271 
3-METHYLGLUTACONIC ACIDURIA, TYPE VII; MGCA7
OMIM:616277 
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY; ECHS1D
OMIM:616281 
NEURODEVELOPMENTAL DISORDER WITH SPASTIC PARAPLEGIA AND MICROCEPHALY; NEDSPM
OMIM:616321 
MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL; CMS3A
OMIM:616354 
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20; SCAR20
OMIM:616394 
RETINITIS PIGMENTOSA 71; RP71
OMIM:616420 
LEUKODYSTROPHY, HYPOMYELINATING, 10; HLD10
OMIM:616421 
MYOCLONIC-ATONIC EPILEPSY; MAE
OMIM:616471 
BETHLEM MYOPATHY 2; BTHLM2
OMIM:616490 
JOUBERT SYNDROME 23; JBTS23
OMIM:616531 
POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS; PMGYCHA
OMIM:616544 
RETINITIS PIGMENTOSA 73; RP73
OMIM:616562 
RETINITIS PIGMENTOSA 74; RP74
OMIM:616564 
NOONAN SYNDROME 10; NS10
OMIM:616632 
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME; SCBMS
OMIM:616647 
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35; DEE35
OMIM:616649 
SPHEROCYTOSIS, TYPE 2; SPH2
OMIM:616651 
ROIFMAN SYNDROME; RFMN
OMIM:616654 
JOUBERT SYNDROME 24; JBTS24
OMIM:616657 
SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY; SPATCCM
OMIM:616668 
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X; CMT2X
OMIM:616683 
LEUKODYSTROPHY, HYPOMYELINATING, 12; HLD12
OMIM:616721 
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn; CDG2N
OMIM:616732 
OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10
OMIM:616738 
RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2
OMIM:616740 
IMMUNODEFICIENCY 46; IMD46
OMIM:616789 
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS; MRFACD
OMIM:616801 
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2
OMIM:616875 
CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION; CAVIPMR
OMIM:616892 
NEPHROTIC SYNDROME, TYPE 12; NPHS12
OMIM:616900 
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3; IHPRF3
OMIM:616973 
MENTAL RETARDATION, AUTOSOMAL DOMINANT 42; MRD42
OMIM:617011 
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR
OMIM:617013 
HYPERMANGANESEMIA WITH DYSTONIA 2; HMNDYT2
OMIM:617047 
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26; CMH26
OMIM:617052 
BONE MARROW FAILURE SYNDROME 3; BMFS3
OMIM:617053 
MIRAGE SYNDROME; MIRAGE
OMIM:617093 
GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY; GRIDHH
OMIM:617106 
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42; DEE42
OMIM:617120 
JOUBERT SYNDROME 27; JBTS27
OMIM:617121 
JOUBERT SYNDROME 28; JBTS28
OMIM:617123 
RETINITIS PIGMENTOSA 76; RP76
OMIM:617137 
FRONTOMETAPHYSEAL DYSPLASIA 2; FMD2
OMIM:617146 
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT
OMIM:617183 
HAREL-YOON SYNDROME; HAYOS
OMIM:617193 
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT
OMIM:617222 
SUDDEN CARDIAC FAILURE, INFANTILE; SCFI
OMIM:617276 
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48; DEE48
OMIM:617330 
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS
OMIM:617350 
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 52; DEE52
OMIM:617397 
PSEUDO-TORCH SYNDROME 2; PTORCH2
OMIM:617433 
RETINITIS PIGMENTOSA 78; RP78
OMIM:617443 
BLEEDING DISORDER, PLATELET-TYPE, 21; BDPLT21
OMIM:617460 
RETINITIS PIGMENTOSA 79; RP79
OMIM:617481 
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES; NMIHBA
OMIM:617537 
RAHMAN SYNDROME; RMNS
OMIM:617547 
RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA; RDMS
OMIM:617622 
JOUBERT SYNDROME 30; JBTS30
OMIM:617675 
MYOPATHY, MITOCHONDRIAL, AND ATAXIA; MMYAT
OMIM:617681 
BLEPHAROCHEILODONTIC SYNDROME 2; BCDS2
OMIM:617694 
AL KAISSI SYNDROME; ALKAS
OMIM:617781 
RETINITIS PIGMENTOSA 80; RP80
OMIM:617805 
RENAL HYPODYSPLASIA/APLASIA 3; RHDA3
OMIM:617807 
NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW
OMIM:617829 
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2; IECEE2
OMIM:617873 
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35; COXPD35
OMIM:617948 
ELLIPTOCYTOSIS 3; EL3
OMIM:617954 
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6; MMDS6
OMIM:618056 
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES; NEDCAS
OMIM:618088 
NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES; NEDAMSS
OMIM:618129 
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4; LGMDD4
OMIM:618138 
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23
OMIM:618174 
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9; CDCBM9
OMIM:618225 
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4; MC1DN4
OMIM:618273 
MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS; MCCCHCM
OMIM:618316 
INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES; IDDCDF
OMIM:618325 
LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION; LIS9
OMIM:618404 
LEUKODYSTROPHY, HYPOMYELINATING, 18; HLD18
OMIM:618512 
O\\'DONNELL-LURIA-RODAN SYNDROME; ODLURO
OMIM:614921 
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It; CDG1T
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ALS1"},{"code":"OMIM:108120","display":"ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A"},{"code":"OMIM:114300","display":"ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3"},{"code":"OMIM:115195","display":"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2"},{"code":"OMIM:115196","display":"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3; CMH3"},{"code":"OMIM:115197","display":"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4"},{"code":"OMIM:115200","display":"CARDIOMYOPATHY, DILATED, 1A; CMD1A"},{"code":"OMIM:117000","display":"CENTRAL CORE DISEASE OF MUSCLE; CCD"},{"code":"OMIM:117360","display":"SPINOCEREBELLAR ATAXIA 29; SCA29"},{"code":"OMIM:119530","display":"OROFACIAL CLEFT 1; OFC1"},{"code":"OMIM:122470","display":"CORNELIA DE LANGE SYNDROME 1; CDLS1"},{"code":"OMIM:130600","display":"ELLIPTOCYTOSIS 2; EL2"},{"code":"OMIM:135900","display":"COFFIN-SIRIS SYNDROME 1; CSS1"},{"code":"OMIM:136140","display":"FLOATING-HARBOR SYNDROME; FLHS"},{"code":"OMIM:137920","display":"RENAL CYSTS AND DIABETES SYNDROME; RCAD"},{"code":"OMIM:139090","display":"GRAY PLATELET SYNDROME; 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HMN2A"},{"code":"OMIM:158810","display":"BETHLEM MYOPATHY 1; BTHLM1"},{"code":"OMIM:159550","display":"ATAXIA-PANCYTOPENIA SYNDROME; ATXPC"},{"code":"OMIM:160150","display":"MYOPATHY, CENTRONUCLEAR, 1; CNM1"},{"code":"OMIM:160500","display":"MYOPATHY, DISTAL, 1; MPD1"},{"code":"OMIM:160800","display":"MYOTONIA CONGENITA, AUTOSOMAL DOMINANT"},{"code":"OMIM:160900","display":"MYOTONIC DYSTROPHY 1; DM1"},{"code":"OMIM:161800","display":"NEMALINE MYOPATHY 3; NEM3"},{"code":"OMIM:163950","display":"NOONAN SYNDROME 1; NS1"},{"code":"OMIM:178110","display":"CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A; CPSFS1A"},{"code":"OMIM:178500","display":"PULMONARY FIBROSIS, IDIOPATHIC; IPF"},{"code":"OMIM:180100","display":"RETINITIS PIGMENTOSA 1; RP1"},{"code":"OMIM:180849","display":"RUBINSTEIN-TAYBI SYNDROME 1; RSTS1"},{"code":"OMIM:181430","display":"SCAPULOPERONEAL MYOPATHY, MYH7-RELATED; SPMM"},{"code":"OMIM:182601","display":"SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4"},{"code":"OMIM:188000","display":"THROMBOCYTOPENIA 2; THC2"},{"code":"OMIM:191480","display":"UNCOMBABLE HAIR SYNDROME 1; UHS1"},{"code":"OMIM:203800","display":"ALSTROM SYNDROME; ALMS"},{"code":"OMIM:204200","display":"CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3"},{"code":"OMIM:204500","display":"CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2"},{"code":"OMIM:205100","display":"AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2"},{"code":"OMIM:206900","display":"MICROPHTHALMIA, SYNDROMIC 3; MCOPS3"},{"code":"OMIM:208900","display":"ATAXIA-TELANGIECTASIA; AT"},{"code":"OMIM:209850","display":"AUTISM"},{"code":"OMIM:209900","display":"BARDET-BIEDL SYNDROME 1; BBS1"},{"code":"OMIM:210000","display":"BEHR SYNDROME; BEHRS"},{"code":"OMIM:210720","display":"MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; MOPD2"},{"code":"OMIM:210900","display":"BLOOM SYNDROME; BLM"},{"code":"OMIM:212065","display":"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A"},{"code":"OMIM:212066","display":"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa; CDG2A"},{"code":"OMIM:214500","display":"CHEDIAK-HIGASHI SYNDROME; CHS"},{"code":"OMIM:214800","display":"CHARGE SYNDROME"},{"code":"OMIM:215500","display":"CHOROIDAL DYSTROPHY, CENTRAL AREOLAR, 1; CACD1"},{"code":"OMIM:216400","display":"COCKAYNE SYNDROME A; CSA"},{"code":"OMIM:216550","display":"COHEN SYNDROME; COH1"},{"code":"OMIM:217080","display":"JALILI SYNDROME"},{"code":"OMIM:217980","display":"CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE"},{"code":"OMIM:218340","display":"TEMTAMY SYNDROME; TEMTYS"},{"code":"OMIM:219200","display":"CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A"},{"code":"OMIM:224050","display":"CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1; CAMRQ1"},{"code":"OMIM:224690","display":"MEIER-GORLIN SYNDROME 1; MGORS1"},{"code":"OMIM:225753","display":"PONTOCEREBELLAR HYPOPLASIA, TYPE 4; PCH4"},{"code":"OMIM:225790","display":"PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME; PVHH"},{"code":"OMIM:227650","display":"FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA"},{"code":"OMIM:229600","display":"FRUCTOSE INTOLERANCE, HEREDITARY; HFI"},{"code":"OMIM:230000","display":"FUCOSIDOSIS"},{"code":"OMIM:230500","display":"GM1-GANGLIOSIDOSIS, TYPE I"},{"code":"OMIM:232300","display":"GLYCOGEN STORAGE DISEASE II; GSD2"},{"code":"OMIM:232600","display":"GLYCOGEN STORAGE DISEASE V; GSD5"},{"code":"OMIM:234200","display":"NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1"},{"code":"OMIM:234500","display":"HARTNUP DISORDER; HND"},{"code":"OMIM:236000","display":"LYMPHOMA, HODGKIN, CLASSIC; CHL"},{"code":"OMIM:236600","display":"HYDROCEPHALUS, CONGENITAL, 1; HYC1"},{"code":"OMIM:236792","display":"L-2-HYDROXYGLUTARIC ACIDURIA; L2HGA"},{"code":"OMIM:243310","display":"BARAITSER-WINTER SYNDROME 1; BRWS1"},{"code":"OMIM:244450","display":"KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS"},{"code":"OMIM:245200","display":"KRABBE DISEASE"},{"code":"OMIM:245359","display":"missing"},{"code":"OMIM:248200","display":"STARGARDT DISEASE 1; STGD1"},{"code":"OMIM:248700","display":"MARDEN-WALKER SYNDROME; MWKS"},{"code":"OMIM:249000","display":"MECKEL SYNDROME, TYPE 1; 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EPD"},{"code":"OMIM:266265","display":"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc; CDG2C"},{"code":"OMIM:266500","display":"REFSUM DISEASE, CLASSIC"},{"code":"OMIM:266510","display":"PEROXISOME BIOGENESIS DISORDER 3B; PBD3B"},{"code":"OMIM:268800","display":"SANDHOFF DISEASE"},{"code":"OMIM:270200","display":"SJOGREN-LARSSON SYNDROME; SLS"},{"code":"OMIM:270800","display":"SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A"},{"code":"OMIM:271900","display":"CANAVAN DISEASE"},{"code":"OMIM:272800","display":"TAY-SACHS DISEASE; TSD"},{"code":"OMIM:273300","display":"TESTICULAR GERM CELL TUMOR; TGCT"},{"code":"OMIM:274000","display":"THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR"},{"code":"OMIM:276901","display":"USHER SYNDROME, TYPE IIA; USH2A"},{"code":"OMIM:277470","display":"PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A"},{"code":"OMIM:300029","display":"RETINITIS PIGMENTOSA 3; RP3"},{"code":"OMIM:300067","display":"LISSENCEPHALY, X-LINKED, 1; LISX1"},{"code":"OMIM:300088","display":"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9; 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CMS3A"},{"code":"OMIM:616354","display":"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20; SCAR20"},{"code":"OMIM:616394","display":"RETINITIS PIGMENTOSA 71; RP71"},{"code":"OMIM:616420","display":"LEUKODYSTROPHY, HYPOMYELINATING, 10; HLD10"},{"code":"OMIM:616421","display":"MYOCLONIC-ATONIC EPILEPSY; MAE"},{"code":"OMIM:616471","display":"BETHLEM MYOPATHY 2; BTHLM2"},{"code":"OMIM:616490","display":"JOUBERT SYNDROME 23; JBTS23"},{"code":"OMIM:616531","display":"POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS; PMGYCHA"},{"code":"OMIM:616544","display":"RETINITIS PIGMENTOSA 73; RP73"},{"code":"OMIM:616562","display":"RETINITIS PIGMENTOSA 74; RP74"},{"code":"OMIM:616564","display":"NOONAN SYNDROME 10; NS10"},{"code":"OMIM:616632","display":"SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME; SCBMS"},{"code":"OMIM:616647","display":"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35; DEE35"},{"code":"OMIM:616649","display":"SPHEROCYTOSIS, TYPE 2; SPH2"},{"code":"OMIM:616651","display":"ROIFMAN SYNDROME; RFMN"},{"code":"OMIM:616654","display":"JOUBERT SYNDROME 24; JBTS24"},{"code":"OMIM:616657","display":"SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY; SPATCCM"},{"code":"OMIM:616668","display":"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X; CMT2X"},{"code":"OMIM:616683","display":"LEUKODYSTROPHY, HYPOMYELINATING, 12; HLD12"},{"code":"OMIM:616721","display":"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn; CDG2N"},{"code":"OMIM:616732","display":"OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10"},{"code":"OMIM:616738","display":"RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2"},{"code":"OMIM:616740","display":"IMMUNODEFICIENCY 46; IMD46"},{"code":"OMIM:616789","display":"MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS; MRFACD"},{"code":"OMIM:616801","display":"HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2"},{"code":"OMIM:616875","display":"CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION; CAVIPMR"},{"code":"OMIM:616892","display":"NEPHROTIC SYNDROME, TYPE 12; NPHS12"},{"code":"OMIM:616900","display":"HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3; IHPRF3"},{"code":"OMIM:616973","display":"MENTAL RETARDATION, AUTOSOMAL DOMINANT 42; MRD42"},{"code":"OMIM:617011","display":"MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR"},{"code":"OMIM:617013","display":"HYPERMANGANESEMIA WITH DYSTONIA 2; HMNDYT2"},{"code":"OMIM:617047","display":"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26; CMH26"},{"code":"OMIM:617052","display":"BONE MARROW FAILURE SYNDROME 3; BMFS3"},{"code":"OMIM:617053","display":"MIRAGE SYNDROME; MIRAGE"},{"code":"OMIM:617093","display":"GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY; GRIDHH"},{"code":"OMIM:617106","display":"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42; DEE42"},{"code":"OMIM:617120","display":"JOUBERT SYNDROME 27; JBTS27"},{"code":"OMIM:617121","display":"JOUBERT SYNDROME 28; JBTS28"},{"code":"OMIM:617123","display":"RETINITIS PIGMENTOSA 76; RP76"},{"code":"OMIM:617137","display":"FRONTOMETAPHYSEAL DYSPLASIA 2; FMD2"},{"code":"OMIM:617146","display":"ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT"},{"code":"OMIM:617183","display":"HAREL-YOON SYNDROME; HAYOS"},{"code":"OMIM:617193","display":"ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT"},{"code":"OMIM:617222","display":"SUDDEN CARDIAC FAILURE, INFANTILE; SCFI"},{"code":"OMIM:617276","display":"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48; DEE48"},{"code":"OMIM:617330","display":"HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS"},{"code":"OMIM:617350","display":"DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 52; DEE52"},{"code":"OMIM:617397","display":"PSEUDO-TORCH SYNDROME 2; PTORCH2"},{"code":"OMIM:617433","display":"RETINITIS PIGMENTOSA 78; RP78"},{"code":"OMIM:617443","display":"BLEEDING DISORDER, PLATELET-TYPE, 21; BDPLT21"},{"code":"OMIM:617460","display":"RETINITIS PIGMENTOSA 79; RP79"},{"code":"OMIM:617481","display":"NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES; NMIHBA"},{"code":"OMIM:617537","display":"RAHMAN SYNDROME; RMNS"},{"code":"OMIM:617547","display":"RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA; RDMS"},{"code":"OMIM:617622","display":"JOUBERT SYNDROME 30; JBTS30"},{"code":"OMIM:617675","display":"MYOPATHY, MITOCHONDRIAL, AND ATAXIA; MMYAT"},{"code":"OMIM:617681","display":"BLEPHAROCHEILODONTIC SYNDROME 2; BCDS2"},{"code":"OMIM:617694","display":"AL KAISSI SYNDROME; ALKAS"},{"code":"OMIM:617781","display":"RETINITIS PIGMENTOSA 80; RP80"},{"code":"OMIM:617805","display":"RENAL HYPODYSPLASIA/APLASIA 3; RHDA3"},{"code":"OMIM:617807","display":"NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW"},{"code":"OMIM:617829","display":"EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2; IECEE2"},{"code":"OMIM:617873","display":"COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35; COXPD35"},{"code":"OMIM:617948","display":"ELLIPTOCYTOSIS 3; EL3"},{"code":"OMIM:617954","display":"MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6; MMDS6"},{"code":"OMIM:618056","display":"NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES; NEDCAS"},{"code":"OMIM:618088","display":"NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES; NEDAMSS"},{"code":"OMIM:618129","display":"MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4; LGMDD4"},{"code":"OMIM:618138","display":"MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23"},{"code":"OMIM:618174","display":"CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9; CDCBM9"},{"code":"OMIM:618225","display":"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4; MC1DN4"},{"code":"OMIM:618273","display":"MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS; MCCCHCM"},{"code":"OMIM:618316","display":"INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES; IDDCDF"},{"code":"OMIM:618325","display":"LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION; LIS9"},{"code":"OMIM:618404","display":"LEUKODYSTROPHY, HYPOMYELINATING, 18; HLD18"},{"code":"OMIM:618512","display":"O\\'DONNELL-LURIA-RODAN SYNDROME; ODLURO"},{"code":"OMIM:614921","display":"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It; CDG1T"}]}},{"name":"tx-resource","resource":{"resourceType":"CodeSystem","id":"ncit","text":{"status":"generated","div":"
This case-sensitive code system http://purl.obolibrary.org/obo/ncit.owl provides a fragment that includes following codes:
Code
Display
C3270 
Neuroblastoma
C5437 
Extracranial Neuroblastoma
C84505 
Tetralogy of Fallot
"},"url":"http://purl.obolibrary.org/obo/ncit.owl","version":"0.2.0","name":"NCIt","title":"NCI Thesaurus","status":"draft","experimental":false,"date":"2023-09-15T21:08:17+00:00","publisher":"NCPI FHIR Working Group","contact":[{"name":"NCPI FHIR Working Group","telecom":[{"system":"url","value":"https://github.com/nih-ncpi"}]},{"name":"Meen Chul Kim","telecom":[{"system":"email","value":"meenchul@d3b.center","use":"work"}]}],"description":"NCI Thesaurus (NCIt) provides reference terminology for many NCI and other systems. It covers vocabulary for clinical care, translational and basic research, and public information and administrative activities.","caseSensitive":true,"content":"fragment","count":3,"concept":[{"code":"C3270","display":"Neuroblastoma"},{"code":"C5437","display":"Extracranial Neuroblastoma"},{"code":"C84505","display":"Tetralogy of Fallot"}]}},{"name":"cache-id","valueId":"1c60316b-3cd4-49c3-ae27-260ce5c62c93"},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"disease-codes","text":{"status":"generated","div":"
This value set includes codes based on the following rules:
Include all codes defined in https://omim.org/
Include all codes defined in http://purl.obolibrary.org/obo/mondo.owl
Include all codes defined in http://purl.obolibrary.org/obo/ncit.owl
"},"url":"https://nih-ncpi.github.io/ncpi-fhir-ig/ValueSet/disease-codes","version":"0.2.0","name":"DiseaseCodes","title":"Disease Codes","status":"draft","experimental":false,"date":"2023-09-15T21:08:17+00:00","publisher":"NCPI FHIR Working Group","contact":[{"name":"NCPI FHIR Working Group","telecom":[{"system":"url","value":"https://github.com/nih-ncpi"}]},{"name":"Meen Chul Kim","telecom":[{"system":"email","value":"meenchul@d3b.center","use":"work"}]}],"description":"This value set includes all codes from this FHIR server's representation of OMIM, Mondo and NICt CodeSystems.","compose":{"include":[{"system":"https://omim.org/"},{"system":"http://purl.obolibrary.org/obo/mondo.owl"},{"system":"http://purl.obolibrary.org/obo/ncit.owl"}]}}},{"name":"_limit","valueString":"1000"},{"name":"_incomplete","valueString":"true"}]}


Response: 

422
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
connection:keep-alive
content-length:389
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:32 GMT
server:nginx
x-request-id:32-575535

{"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "
Unable to provide support for code system http://purl.obolibrary.org/obo/mondo.owl
"},"issue" : [{"severity" : "error","code" : "not-supported","details" : {"text" : "Unable to provide support for code system http://purl.obolibrary.org/obo/mondo.owl"}}]}

49

Request: 

POST http://tx.fhir.org/r4/ValueSet/$expand?_limit=1000&_incomplete=true HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"includeDefinition","valueBoolean":false},{"name":"excludeNested","valueBoolean":false},{"name":"valueSet","resource":{"resourceType":"ValueSet","status":"active","compose":{"inactive":true,"include":[{"system":"https://uts.nlm.nih.gov/uts/umls","concept":[{"code":"C2348584","display":"Subject Unique Identifier"},{"code":"C0079399","display":"Gender"},{"code":"C168843","display":"Age in Days at Enrollment"},{"code":"C1305855","display":"Body mass index"},{"code":"C0872128","display":"case control"}]}]}}},{"name":"_limit","valueString":"1000"},{"name":"_incomplete","valueString":"true"}]}


Response: 

422
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
connection:keep-alive
content-length:373
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:50 GMT
server:nginx
x-request-id:32-575554

{"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "
Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls
"},"issue" : [{"severity" : "error","code" : "not-supported","details" : {"text" : "Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls"}}]}

50

Request: 

POST http://tx.fhir.org/r4/ValueSet/$expand?_limit=1000&_incomplete=true HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"excludeNested","valueBoolean":false},{"name":"incomplete-ok","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"datatable-mappings-valueset-1","text":{"status":"generated","div":"
This value set includes codes based on the following rules:
Include these codes as defined in https://uts.nlm.nih.gov/uts/umls
Code
Display
C2348584
Subject Unique Identifier
C0079399
Gender
C168843
Age in Days at Enrollment
C1305855
Body mass index
C0872128
case control
Include these codes as defined in http://loinc.org
Code
Display
LP35925-4
Body mass index (BMI)
Include these codes as defined in http://purl.obolibrary.org/obo/hp.owl
Code
Display
HP:0010772
Anomalous pulmonary venous return
Include these codes as defined in http://purl.obolibrary.org/obo/mondo.owl
Code
Display
0017705
congenital pulmonary venous return anomaly
0007130
congenital total pulmonary venous return anomaly
"},"url":"https://nih-ncpi.github.io/ncpi-fhir-ig/ValueSet/datatable-mappings-valueset-1","version":"0.2.0","name":"ExampleStudyTableMappingsVS1","title":"Harmonized ValueSet for data table","status":"active","date":"2023-09-15T21:08:17+00:00","publisher":"NCPI FHIR Working Group","contact":[{"name":"NCPI FHIR Working Group","telecom":[{"system":"url","value":"https://github.com/nih-ncpi"}]},{"name":"Meen Chul Kim","telecom":[{"system":"email","value":"meenchul@d3b.center","use":"work"}]}],"description":"Public codes mapped from example dataset\n\nThe codes used below were chosen purely for example's sake and are in no way an endorsement or suggestion for terms that should be used in a real data-dictionary.","compose":{"include":[{"system":"https://uts.nlm.nih.gov/uts/umls","concept":[{"code":"C2348584","display":"Subject Unique Identifier"},{"code":"C0079399","display":"Gender"},{"code":"C168843","display":"Age in Days at Enrollment"},{"code":"C1305855","display":"Body mass index"},{"code":"C0872128","display":"case control"}]},{"system":"http://loinc.org","concept":[{"code":"LP35925-4","display":"Body mass index (BMI)"}]},{"system":"http://purl.obolibrary.org/obo/hp.owl","concept":[{"code":"HP:0010772","display":"Anomalous pulmonary venous return"}]},{"system":"http://purl.obolibrary.org/obo/mondo.owl","concept":[{"code":"0017705","display":"congenital pulmonary venous return anomaly"},{"code":"0007130","display":"congenital total pulmonary venous return anomaly"}]}]}}},{"name":"_limit","valueString":"1000"},{"name":"_incomplete","valueString":"true"}]}


Response: 

422
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
connection:keep-alive
content-length:373
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:50 GMT
server:nginx
x-request-id:32-575557

{"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "
Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls
"},"issue" : [{"severity" : "error","code" : "not-supported","details" : {"text" : "Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls"}}]}

51

Request: 

POST http://tx.fhir.org/r4/ValueSet/$expand?_limit=1000&_incomplete=true HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"includeDefinition","valueBoolean":false},{"name":"excludeNested","valueBoolean":false},{"name":"valueSet","resource":{"resourceType":"ValueSet","status":"active","compose":{"inactive":true,"include":[{"system":"https://uts.nlm.nih.gov/uts/umls","concept":[{"code":"C99269","display":"Case"},{"code":"C99270","display":"Control"}]}]}}},{"name":"_limit","valueString":"1000"},{"name":"_incomplete","valueString":"true"}]}


Response: 

422
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
connection:keep-alive
content-length:373
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:53 GMT
server:nginx
x-request-id:32-575564

{"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "
Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls
"},"issue" : [{"severity" : "error","code" : "not-supported","details" : {"text" : "Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls"}}]}

52

Request: 

POST http://tx.fhir.org/r4/ValueSet/$expand?_limit=1000&_incomplete=true HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"excludeNested","valueBoolean":false},{"name":"incomplete-ok","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"example-study-data-dictionary-case-control-vs-1","text":{"status":"generated","div":"
Include these codes as defined in https://uts.nlm.nih.gov/uts/umls
Code
Display
C99269
Case
C99270
Control
"},"url":"https://nih-ncpi.github.io/ncpi-fhir-ig/ValueSet/example-study-data-dictionary-case-control-vs-1","version":"0.2.0","name":"ExampleStudyDataDictionaryCaseControlVS1","title":"Case/Control Vars for 'status' categoricals","status":"draft","date":"2023-09-15T21:08:17+00:00","publisher":"NCPI FHIR Working Group","contact":[{"name":"NCPI FHIR Working Group","telecom":[{"system":"url","value":"https://github.com/nih-ncpi"}]},{"name":"Meen Chul Kim","telecom":[{"system":"email","value":"meenchul@d3b.center","use":"work"}]}],"description":"Example ValueSet listing all possible 'values' from the Case/Control variable.","compose":{"include":[{"system":"https://uts.nlm.nih.gov/uts/umls","concept":[{"code":"C99269","display":"Case"},{"code":"C99270","display":"Control"}]}]}}},{"name":"_limit","valueString":"1000"},{"name":"_incomplete","valueString":"true"}]}


Response: 

422
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
connection:keep-alive
content-length:373
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:53 GMT
server:nginx
x-request-id:32-575567

{"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "
Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls
"},"issue" : [{"severity" : "error","code" : "not-supported","details" : {"text" : "Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls"}}]}

53

Request: 

POST http://tx.fhir.org/r4/ValueSet/$expand?_limit=1000&_incomplete=true HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"excludeNested","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"example-study-data-dictionary-case-control-vs-1","text":{"status":"generated","div":"
Include these codes as defined in https://uts.nlm.nih.gov/uts/umls
Code
Display
C99269
Case
C99270
Control
"},"url":"https://nih-ncpi.github.io/ncpi-fhir-ig/ValueSet/example-study-data-dictionary-case-control-vs-1","version":"0.2.0","name":"ExampleStudyDataDictionaryCaseControlVS1","title":"Case/Control Vars for 'status' categoricals","status":"draft","date":"2023-09-15T21:08:17+00:00","publisher":"NCPI FHIR Working Group","contact":[{"name":"NCPI FHIR Working Group","telecom":[{"system":"url","value":"https://github.com/nih-ncpi"}]},{"name":"Meen Chul Kim","telecom":[{"system":"email","value":"meenchul@d3b.center","use":"work"}]}],"description":"Example ValueSet listing all possible 'values' from the Case/Control variable.","compose":{"include":[{"system":"https://uts.nlm.nih.gov/uts/umls","concept":[{"code":"C99269","display":"Case"},{"code":"C99270","display":"Control"}]}]}}},{"name":"_limit","valueString":"1000"},{"name":"_incomplete","valueString":"true"}]}


Response: 

422
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
connection:keep-alive
content-length:373
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:59 GMT
server:nginx
x-request-id:32-575578

{"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "
Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls
"},"issue" : [{"severity" : "error","code" : "not-supported","details" : {"text" : "Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls"}}]}

54

Request: 

POST http://tx.fhir.org/r4/ValueSet/$expand?_limit=1000&_incomplete=true HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"excludeNested","valueBoolean":false},{"name":"incomplete-ok","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"phenotype-codes","text":{"status":"generated","div":"
Include all codes defined in http://purl.obolibrary.org/obo/hp.owl
"},"url":"https://nih-ncpi.github.io/ncpi-fhir-ig/ValueSet/phenotype-codes","version":"0.2.0","name":"PhenotypeCodes","title":"Phenotype Codes","status":"draft","experimental":false,"date":"2023-09-15T21:08:17+00:00","publisher":"NCPI FHIR Working Group","contact":[{"name":"NCPI FHIR Working Group","telecom":[{"system":"url","value":"https://github.com/nih-ncpi"}]},{"name":"Meen Chul Kim","telecom":[{"system":"email","value":"meenchul@d3b.center","use":"work"}]}],"description":"This value set includes all codes from Human Phenotype Ontology.","compose":{"include":[{"system":"http://purl.obolibrary.org/obo/hp.owl"}]}}},{"name":"_limit","valueString":"1000"},{"name":"_incomplete","valueString":"true"}]}


Response: 

422
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
connection:keep-alive
content-length:383
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:11:00 GMT
server:nginx
x-request-id:32-575581

{"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "
Unable to provide support for code system http://purl.obolibrary.org/obo/hp.owl
"},"issue" : [{"severity" : "error","code" : "not-supported","details" : {"text" : "Unable to provide support for code system http://purl.obolibrary.org/obo/hp.owl"}}]}

55

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unstats.un.org/unsd/methods/m49/m49.htm","code":"001"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:209
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:11:13 GMT
last-modified:Fri, 15 Sep 2023 21:11:13 GMT
pragma:no-cache
server:nginx
x-request-id:32-575592

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://unstats.un.org/unsd/methods/m49/m49.htm"},{"name" : "code","valueCode" : "001"}]}

56

Request: 

POST http://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unstats.un.org/unsd/methods/m49/m49.htm","code":"001"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"http://hl7.org/fhir/ValueSet/jurisdiction--2|4.0.1"},{"name":"cache-id","valueId":"1c60316b-3cd4-49c3-ae27-260ce5c62c93"},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:209
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:11:14 GMT
last-modified:Fri, 15 Sep 2023 21:11:14 GMT
pragma:no-cache
server:nginx
x-request-id:32-575593

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://unstats.un.org/unsd/methods/m49/m49.htm"},{"name" : "code","valueCode" : "001"}]}

--- 1 -----------------
Request: 

GET http://tx.fhir.org/r4/metadata?_summary=true HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:1519
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:07:55 GMT
pragma:no-cache
server:nginx
x-request-id:32-575306

{"resourceType" : "CapabilityStatement","id" : "FhirServer","meta" : {"tag" : [{"system" : "http://hl7.org/fhir/v3/ObservationValue","code" : "SUBSETTED","display" : "Subsetted"}]},"url" : "http://tx.fhir.org/r4/metadata","version" : "4.0.1-3.0.0","name" : "FHIR Reference Server Conformance Statement","status" : "active","date" : "2023-09-15T21:07:55.815Z","contact" : [{"telecom" : [{"system" : "other","value" : "http://healthintersections.com.au/"}]}],"kind" : "instance","instantiates" : ["http://hl7.org/fhir/CapabilityStatement/terminology-server"],"software" : {"name" : "Reference Server","version" : "3.0.0","releaseDate" : "2023-06-19T19:50:55.040Z"},"implementation" : {"description" : "FHIR Server running at http://tx.fhir.org/r4","url" : "http://tx.fhir.org/r4"},"fhirVersion" : "4.0.1","format" : ["application/fhir+xml","application/fhir+json"],"rest" : [{"mode" : "server","security" : {"cors" : true},"operation" : [{"name" : "expand","definition" : "http://hl7.org/fhir/OperationDefinition/ValueSet-expand"},{"name" : "lookup","definition" : "http://hl7.org/fhir/OperationDefinition/ValueSet-lookup"},{"name" : "validate-code","definition" : "http://hl7.org/fhir/OperationDefinition/Resource-validate"},{"name" : "translate","definition" : "http://hl7.org/fhir/OperationDefinition/ConceptMap-translate"},{"name" : "closure","definition" : "http://hl7.org/fhir/OperationDefinition/ConceptMap-closure"},{"name" : "versions","definition" : "http://tx.fhir.org/r4/OperationDefinition/fso-versions"}]}]}

--- 2 -----------------
Request: 

GET http://tx.fhir.org/r4/metadata?mode=terminology HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:74940
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:07:55 GMT
pragma:no-cache
server:nginx
x-request-id:32-575307

{"resourceType" : "TerminologyCapabilities","id" : "FhirServer","url" : "http://tx.fhir.org/r4/metadata","version" : "2.0.0","name" : "FHIR Reference Server Teminology Capability Statement","status" : "active","date" : "2023-09-15T21:07:55.893Z","contact" : [{"telecom" : [{"system" : "other","value" : "http://healthintersections.com.au/"}]}],"description" : "Standard Teminology Capability Statement for the open source Reference FHIR Server provided by Health Intersections","codeSystem" : [{"uri" : "http://cds-hooks.hl7.org/CodeSystem/indicator"},{"uri" : "http://devices.fhir.org/CodeSystem/MDC-concept-status"},{"uri" : "http://devices.fhir.org/CodeSystem/MDC-designation-use"},{"uri" : "http://dicom.nema.org/resources/ontology/DCM"},{"uri" : "http://fdasis.nlm.nih.gov"},{"uri" : "http://fhir.ohdsi.org/CodeSystem/concepts"},{"uri" : "http://healthit.gov/nhin/purposeofuse"},{"uri" : "http://hl7.org/fhir/abstract-types"},{"uri" : "http://hl7.org/fhir/account-status"},{"uri" : "http://hl7.org/fhir/action-cardinality-behavior"},{"uri" : "http://hl7.org/fhir/action-condition-kind"},{"uri" : "http://hl7.org/fhir/action-grouping-behavior"},{"uri" : "http://hl7.org/fhir/action-participant-type"},{"uri" : "http://hl7.org/fhir/action-precheck-behavior"},{"uri" : "http://hl7.org/fhir/action-relationship-type"},{"uri" : "http://hl7.org/fhir/action-required-behavior"},{"uri" : "http://hl7.org/fhir/action-selection-behavior"},{"uri" : "http://hl7.org/fhir/additionalmaterials"},{"uri" : "http://hl7.org/fhir/address-type"},{"uri" : "http://hl7.org/fhir/address-use"},{"uri" : "http://hl7.org/fhir/administrative-gender"},{"uri" : "http://hl7.org/fhir/adverse-event-actuality"},{"uri" : "http://hl7.org/fhir/allergy-intolerance-category"},{"uri" : "http://hl7.org/fhir/allergy-intolerance-criticality"},{"uri" : "http://hl7.org/fhir/allergy-intolerance-type"},{"uri" : "http://hl7.org/fhir/animal-genderstatus"},{"uri" : "http://hl7.org/fhir/animal-species"},{"uri" : "http://hl7.org/fhir/appointmentstatus"},{"uri" : "http://hl7.org/fhir/assert-direction-codes"},{"uri" : "http://hl7.org/fhir/assert-operator-codes"},{"uri" : "http://hl7.org/fhir/assert-response-code-types"},{"uri" : "http://hl7.org/fhir/asset-availability"},{"uri" : "http://hl7.org/fhir/audit-event-action"},{"uri" : "http://hl7.org/fhir/binding-strength"},{"uri" : "http://hl7.org/fhir/bundle-type"},{"uri" : "http://hl7.org/fhir/capability-statement-kind"},{"uri" : "http://hl7.org/fhir/care-plan-activity-status"},{"uri" : "http://hl7.org/fhir/care-team-status"},{"uri" : "http://hl7.org/fhir/chargeitem-status"},{"uri" : "http://hl7.org/fhir/claim-use"},{"uri" : "http://hl7.org/fhir/code-search-support"},{"uri" : "http://hl7.org/fhir/CodeSystem/example"},{"uri" : "http://hl7.org/fhir/CodeSystem/medicationrequest-intent"},{"uri" : "http://hl7.org/fhir/CodeSystem/medicationrequest-status"},{"uri" : "http://hl7.org/fhir/CodeSystem/medication-statement-status"},{"uri" : "http://hl7.org/fhir/CodeSystem/medication-status"},{"uri" : "http://hl7.org/fhir/CodeSystem/status"},{"uri" : "http://hl7.org/fhir/CodeSystem/summary"},{"uri" : "http://hl7.org/fhir/CodeSystem/task-code"},{"uri" : "http://hl7.org/fhir/codesystem-content-mode"},{"uri" : "http://hl7.org/fhir/codesystem-hierarchy-meaning"},{"uri" : "http://hl7.org/fhir/compartment-type"},{"uri" : "http://hl7.org/fhir/composition-attestation-mode"},{"uri" : "http://hl7.org/fhir/composition-status"},{"uri" : "http://hl7.org/fhir/concept-map-equivalence"},{"uri" : "http://hl7.org/fhir/conceptmap-unmapped-mode"},{"uri" : "http://hl7.org/fhir/concept-properties"},{"uri" : "http://hl7.org/fhir/concept-property-type"},{"uri" : "http://hl7.org/fhir/concept-subsumption-outcome"},{"uri" : "http://hl7.org/fhir/conditional-delete-status"},{"uri" : "http://hl7.org/fhir/conditional-read-status"},{"uri" : "http://hl7.org/fhir/consent-data-meaning"},{"uri" : "http://hl7.org/fhir/consentperformer"},{"uri" : "http://hl7.org/fhir/consent-provision-type"},{"uri" : "http://hl7.org/fhir/consent-state-codes"},{"uri" : "http://hl7.org/fhir/constraint-severity"},{"uri" : "http://hl7.org/fhir/contact-point-system"},{"uri" : "http://hl7.org/fhir/contact-point-use"},{"uri" : "http://hl7.org/fhir/contract-action-status"},{"uri" : "http://hl7.org/fhir/contract-asset-context"},{"uri" : "http://hl7.org/fhir/contract-asset-scope"},{"uri" : "http://hl7.org/fhir/contract-asset-subtype"},{"uri" : "http://hl7.org/fhir/contract-asset-type"},{"uri" : "http://hl7.org/fhir/contract-decision-mode"},{"uri" : "http://hl7.org/fhir/contract-definition-subtype"},{"uri" : "http://hl7.org/fhir/contract-definition-type"},{"uri" : "http://hl7.org/fhir/contract-expiration-type"},{"uri" : "http://hl7.org/fhir/contract-legalstate"},{"uri" : "http://hl7.org/fhir/contract-party-role"},{"uri" : "http://hl7.org/fhir/contract-publicationstatus"},{"uri" : "http://hl7.org/fhir/contract-scope"},{"uri" : "http://hl7.org/fhir/contract-security-category"},{"uri" : "http://hl7.org/fhir/contract-security-classification"},{"uri" : "http://hl7.org/fhir/contract-security-control"},{"uri" : "http://hl7.org/fhir/contract-status"},{"uri" : "http://hl7.org/fhir/contributor-type"},{"uri" : "http://hl7.org/fhir/data-types"},{"uri" : "http://hl7.org/fhir/days-of-week"},{"uri" : "http://hl7.org/fhir/definition-resource-types"},{"uri" : "http://hl7.org/fhir/detectedissue-severity"},{"uri" : "http://hl7.org/fhir/device-action"},{"uri" : "http://hl7.org/fhir/device-definition-status"},{"uri" : "http://hl7.org/fhir/device-nametype"},{"uri" : "http://hl7.org/fhir/device-statement-status"},{"uri" : "http://hl7.org/fhir/device-status"},{"uri" : "http://hl7.org/fhir/diagnostic-report-status"},{"uri" : "http://hl7.org/fhir/discriminator-type"},{"uri" : "http://hl7.org/fhir/document-mode"},{"uri" : "http://hl7.org/fhir/document-reference-status"},{"uri" : "http://hl7.org/fhir/document-relationship-type"},{"uri" : "http://hl7.org/fhir/eligibilityrequest-purpose"},{"uri" : "http://hl7.org/fhir/eligibilityresponse-purpose"},{"uri" : "http://hl7.org/fhir/encounter-location-status"},{"uri" : "http://hl7.org/fhir/encounter-status"},{"uri" : "http://hl7.org/fhir/endpoint-status"},{"uri" : "http://hl7.org/fhir/episode-of-care-status"},{"uri" : "http://hl7.org/fhir/event-capability-mode"},{"uri" : "http://hl7.org/fhir/event-resource-types"},{"uri" : "http://hl7.org/fhir/event-status"},{"uri" : "http://hl7.org/fhir/event-timing"},{"uri" : "http://hl7.org/fhir/examplescenario-actor-type"},{"uri" : "http://hl7.org/fhir/ex-claimitemtype"},{"uri" : "http://hl7.org/fhir/ex-fdi"},{"uri" : "http://hl7.org/fhir/ex-onsettype"},{"uri" : "http://hl7.org/fhir/ex-oralprostho"},{"uri" : "http://hl7.org/fhir/ex-pharmaservice"},{"uri" : "http://hl7.org/fhir/explanationofbenefit-status"},{"uri" : "http://hl7.org/fhir/exposure-state"},{"uri" : "http://hl7.org/fhir/expression-language"},{"uri" : "http://hl7.org/fhir/ex-servicemodifier"},{"uri" : "http://hl7.org/fhir/ex-serviceproduct"},{"uri" : "http://hl7.org/fhir/extension-context-type"},{"uri" : "http://hl7.org/fhir/extra-activity-type"},{"uri" : "http://hl7.org/fhir/ex-udi"},{"uri" : "http://hl7.org/fhir/feeding-device"},{"uri" : "http://hl7.org/fhir/FHIR-version"},{"uri" : "http://hl7.org/fhir/filter-operator"},{"uri" : "http://hl7.org/fhir/flag-priority-code"},{"uri" : "http://hl7.org/fhir/flag-status"},{"uri" : "http://hl7.org/fhir/fm-conditions"},{"uri" : "http://hl7.org/fhir/fm-status"},{"uri" : "http://hl7.org/fhir/gender-identity"},{"uri" : "http://hl7.org/fhir/goal-status"},{"uri" : "http://hl7.org/fhir/goal-status-reason"},{"uri" : "http://hl7.org/fhir/graph-compartment-rule"},{"uri" : "http://hl7.org/fhir/graph-compartment-use"},{"uri" : "http://hl7.org/fhir/group-measure"},{"uri" : "http://hl7.org/fhir/group-type"},{"uri" : "http://hl7.org/fhir/guidance-response-status"},{"uri" : "http://hl7.org/fhir/guide-page-generation"},{"uri" : "http://hl7.org/fhir/history-status"},{"uri" : "http://hl7.org/fhir/http-operations"},{"uri" : "http://hl7.org/fhir/http-verb"},{"uri" : "http://hl7.org/fhir/identifier-use"},{"uri" : "http://hl7.org/fhir/identity-assuranceLevel"},{"uri" : "http://hl7.org/fhir/imagingstudy-status"},{"uri" : "http://hl7.org/fhir/intervention"},{"uri" : "http://hl7.org/fhir/invoice-priceComponentType"},{"uri" : "http://hl7.org/fhir/invoice-status"},{"uri" : "http://hl7.org/fhir/issue-severity"},{"uri" : "http://hl7.org/fhir/issue-type"},{"uri" : "http://hl7.org/fhir/item-type"},{"uri" : "http://hl7.org/fhir/knowledge-resource-types"},{"uri" : "http://hl7.org/fhir/language-preference-type"},{"uri" : "http://hl7.org/fhir/linkage-type"},{"uri" : "http://hl7.org/fhir/link-type"},{"uri" : "http://hl7.org/fhir/list-mode"},{"uri" : "http://hl7.org/fhir/list-status"},{"uri" : "http://hl7.org/fhir/location-mode"},{"uri" : "http://hl7.org/fhir/location-status"},{"uri" : "http://hl7.org/fhir/map-context-type"},{"uri" : "http://hl7.org/fhir/map-group-type-mode"},{"uri" : "http://hl7.org/fhir/map-input-mode"},{"uri" : "http://hl7.org/fhir/map-model-mode"},{"uri" : "http://hl7.org/fhir/map-source-list-mode"},{"uri" : "http://hl7.org/fhir/map-target-list-mode"},{"uri" : "http://hl7.org/fhir/map-transform"},{"uri" : "http://hl7.org/fhir/measure-report-status"},{"uri" : "http://hl7.org/fhir/measure-report-type"},{"uri" : "http://hl7.org/fhir/message-events"},{"uri" : "http://hl7.org/fhir/messageheader-response-request"},{"uri" : "http://hl7.org/fhir/message-significance-category"},{"uri" : "http://hl7.org/fhir/metric-calibration-state"},{"uri" : "http://hl7.org/fhir/metric-calibration-type"},{"uri" : "http://hl7.org/fhir/metric-category"},{"uri" : "http://hl7.org/fhir/metric-color"},{"uri" : "http://hl7.org/fhir/metric-operational-status"},{"uri" : "http://hl7.org/fhir/name-use"},{"uri" : "http://hl7.org/fhir/namingsystem-identifier-type"},{"uri" : "http://hl7.org/fhir/namingsystem-type"},{"uri" : "http://hl7.org/fhir/narrative-status"},{"uri" : "http://hl7.org/fhir/network-type"},{"uri" : "http://hl7.org/fhir/note-type"},{"uri" : "http://hl7.org/fhir/observation-range-category"},{"uri" : "http://hl7.org/fhir/observation-status"},{"uri" : "http://hl7.org/fhir/operation-kind"},{"uri" : "http://hl7.org/fhir/operation-parameter-use"},{"uri" : "http://hl7.org/fhir/organization-role"},{"uri" : "http://hl7.org/fhir/orientation-type"},{"uri" : "http://hl7.org/fhir/participantrequired"},{"uri" : "http://hl7.org/fhir/participationstatus"},{"uri" : "http://hl7.org/fhir/permitted-data-type"},{"uri" : "http://hl7.org/fhir/practitioner-specialty"},{"uri" : "http://hl7.org/fhir/procedure-progress-status-code"},{"uri" : "http://hl7.org/fhir/product-category"},{"uri" : "http://hl7.org/fhir/product-status"},{"uri" : "http://hl7.org/fhir/product-storage-scale"},{"uri" : "http://hl7.org/fhir/property-representation"},{"uri" : "http://hl7.org/fhir/provenance-entity-role"},{"uri" : "http://hl7.org/fhir/provenance-participant-role"},{"uri" : "http://hl7.org/fhir/publication-status"},{"uri" : "http://hl7.org/fhir/quality-type"},{"uri" : "http://hl7.org/fhir/quantity-comparator"},{"uri" : "http://hl7.org/fhir/questionnaire-answers-status"},{"uri" : "http://hl7.org/fhir/questionnaire-display-category"},{"uri" : "http://hl7.org/fhir/questionnaire-enable-behavior"},{"uri" : "http://hl7.org/fhir/questionnaire-enable-operator"},{"uri" : "http://hl7.org/fhir/questionnaire-item-control"},{"uri" : "http://hl7.org/fhir/reaction-event-severity"},{"uri" : "http://hl7.org/fhir/reason-medication-not-given"},{"uri" : "http://hl7.org/fhir/reference-handling-policy"},{"uri" : "http://hl7.org/fhir/reference-version-rules"},{"uri" : "http://hl7.org/fhir/related-artifact-type"},{"uri" : 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atrial tachycardia"},{"code":"HP:0005274","display":"Prominent nasal tip"},{"code":"HP:0001262","display":"Excessive daytime somnolence"},{"code":"HP:0001285","display":"Spastic tetraparesis"},{"code":"HP:0012171","display":"Stereotypical hand wringing"},{"code":"HP:0002518","display":"Abnormality of the periventricular white matter"},{"code":"HP:0005692","display":"Joint hyperflexibility"},{"code":"HP:0007440","display":"Generalized hyperpigmentation"},{"code":"HP:0001805","display":"Onychogryposis"},{"code":"HP:0011945","display":"Bronchiolitis obliterans organizing pneumonia"},{"code":"HP:0003763","display":"Bruxism"},{"code":"HP:0010500","display":"Hyperextensibility of the knee"},{"code":"HP:0040115","display":"Abnormality of the Eustachian tube"},{"code":"HP:0008751","display":"Laryngeal cleft"},{"code":"HP:0000403","display":"Recurrent otitis media"},{"code":"HP:0001787","display":"Abnormal delivery"},{"code":"HP:0002571","display":"Achalasia"},{"code":"HP:0002615","display":"Hypotension"},{"code":"HP:0003550","display":"Predominantly lower limb lymphedema"},{"code":"HP:0030363","display":"Primary Caesarian section"},{"code":"HP:0001727","display":"Thromboembolic stroke"},{"code":"HP:0100603","display":"Toxemia of pregnancy"},{"code":"HP:0010836","display":"Abnormal circulating copper concentration"},{"code":"HP:0000356","display":"Abnormality of the outer ear"},{"code":"HP:0002197","display":"Generalized-onset seizure"},{"code":"HP:0011436","display":"Abnormal maternal serum screening"},{"code":"HP:0003517","display":"Birth length greater than 97th percentile"},{"code":"HP:0003561","display":"Birth length less than 3rd percentile"},{"code":"HP:0012188","display":"Hyperemesis gravidarum"},{"code":"HP:0010519","display":"Increased fetal movement"},{"code":"HP:0030244","display":"Maternal fever in pregnancy"},{"code":"HP:0008071","display":"Maternal hypertension"},{"code":"HP:0100622","display":"Maternal seizure"},{"code":"HP:0011438","display":"Maternal teratogenic exposure"},{"code":"HP:0001998","display":"Neonatal hypoglycemia"},{"code":"HP:0040187","display":"Neonatal sepsis"},{"code":"HP:0002033","display":"Poor suck"},{"code":"HP:0006579","display":"Prolonged neonatal jaundice"},{"code":"HP:0001724","display":"obsolete Aortic dilatation"},{"code":"HP:0010621","display":"Cutaneous syndactyly of toes"},{"code":"HP:0001880","display":"Eosinophilia"},{"code":"HP:0000162","display":"Glossoptosis"},{"code":"HP:0100578","display":"Lipoatrophy"},{"code":"HP:0002562","display":"Low-set nipples"},{"code":"HP:0012893","display":"Neck muscle hypertrophy"},{"code":"HP:0001027","display":"Soft, doughy skin"},{"code":"HP:0100738","display":"Abnormal eating behavior"},{"code":"HP:0007328","display":"Impaired pain sensation"},{"code":"HP:0002878","display":"Respiratory failure"},{"code":"HP:0001776","display":"Bilateral talipes equinovarus"},{"code":"HP:0001360","display":"Holoprosencephaly"},{"code":"HP:0001973","display":"Autoimmune thrombocytopenia"},{"code":"HP:0100749","display":"Chest pain"},{"code":"HP:0012531","display":"Pain"},{"code":"HP:0007585","display":"Skin fragility with non-scarring blistering"},{"code":"HP:0002108","display":"Spontaneous pneumothorax"},{"code":"HP:0006562","display":"Viral hepatitis"},{"code":"HP:0012647","display":"Abnormal inflammatory response"},{"code":"HP:0012088","display":"Abnormal urinary odor"},{"code":"HP:0011458","display":"Abdominal symptom"},{"code":"HP:0002829","display":"Arthralgia"},{"code":"HP:0010783","display":"Erythema"},{"code":"HP:0010307","display":"Stridor"},{"code":"HP:0001269","display":"Hemiparesis"},{"code":"HP:0006532","display":"Recurrent pneumonia"},{"code":"HP:0002580","display":"Volvulus"},{"code":"HP:0012387","display":"Bronchitis"},{"code":"HP:0001266","display":"Choreoathetosis"},{"code":"HP:0001531","display":"Failure to thrive in infancy"},{"code":"HP:0011470","display":"Nasogastric tube feeding in infancy"},{"code":"HP:0001361","display":"Nystagmus-induced head nodding"},{"code":"HP:0001997","display":"Gout"},{"code":"HP:0000965","display":"Cutis marmorata"},{"code":"HP:0010316","display":"Ebstein anomaly of the tricuspid valve"},{"code":"HP:0010543","display":"Opsoclonus"},{"code":"HP:0007704","display":"Paroxysmal involuntary eye movements"},{"code":"HP:0030364","display":"Secondary Caesarian section"},{"code":"HP:0007738","display":"Uncontrolled eye movements"},{"code":"HP:0030366","display":"Delivery by Odon device"},{"code":"HP:0011411","display":"Forceps delivery"},{"code":"HP:0030369","display":"Induced vaginal delivery"},{"code":"HP:0005268","display":"Spontaneous abortion"},{"code":"HP:0030365","display":"Vaginal birth after Caesarian"},{"code":"HP:0011412","display":"Ventouse delivery"},{"code":"HP:0002572","display":"Episodic vomiting"},{"code":"HP:0030350","display":"Erythematous papule"},{"code":"HP:0001386","display":"Joint swelling"},{"code":"HP:0000147","display":"Polycystic ovaries"},{"code":"HP:0012412","display":"Premature adrenarche"},{"code":"HP:0004411","display":"Deviated nasal septum"},{"code":"HP:0040183","display":"Encopresis"},{"code":"HP:0100507","display":"Reduced blood folate concentration"},{"code":"HP:0007011","display":"Fourth cranial nerve palsy"},{"code":"HP:0000375","display":"Abnormal cochlea morphology"},{"code":"HP:0009911","display":"Abnormal temporal bone morphology"},{"code":"HP:0000081","display":"Duplicated collecting system"},{"code":"HP:0006894","display":"Hypoplastic olfactory lobes"},{"code":"HP:0011380","display":"Morphological abnormality of the semicircular canal"},{"code":"HP:0000110","display":"Renal dysplasia"},{"code":"HP:0030025","display":"Auricular pit"},{"code":"HP:0010044","display":"Short 4th metacarpal"},{"code":"HP:0010047","display":"Short 5th metacarpal"},{"code":"HP:0000201","display":"Pierre-Robin sequence"},{"code":"HP:0100837","display":"Atrophodermia vermiculata"},{"code":"HP:0002673","display":"Coxa valga"},{"code":"HP:0001476","display":"Delayed closure of the anterior fontanelle"},{"code":"HP:0011069","display":"Increased number of teeth"},{"code":"HP:0009879","display":"Simplified gyral pattern"},{"code":"HP:0006315","display":"Single median maxillary incisor"},{"code":"HP:0001194","display":"Abnormalities of placenta or umbilical cord"},{"code":"HP:0100767","display":"Abnormal placenta morphology"},{"code":"HP:0006543","display":"Cardiorespiratory arrest"},{"code":"HP:0003074","display":"Hyperglycemia"},{"code":"HP:0000842","display":"Hyperinsulinemia"},{"code":"HP:0011951","display":"Aspiration pneumonia"},{"code":"HP:0006528","display":"Chronic lung disease"},{"code":"HP:0002383","display":"Encephalitis"},{"code":"HP:0000388","display":"Otitis media"},{"code":"HP:0002530","display":"Axial dystonia"},{"code":"HP:0002780","display":"Bronchomalacia"},{"code":"HP:0008755","display":"Laryngotracheomalacia"},{"code":"HP:0000308","display":"Microretrognathia"},{"code":"HP:0002786","display":"Tracheobronchomalacia"},{"code":"HP:0012389","display":"Appendicular hypotonia"},{"code":"HP:0011323","display":"Cleft of chin"},{"code":"HP:0000417","display":"Slender nose"},{"code":"HP:0001863","display":"Toe clinodactyly"},{"code":"HP:0008386","display":"Aplasia/Hypoplasia of the nails"},{"code":"HP:0006989","display":"Dysplastic corpus callosum"},{"code":"HP:0100954","display":"Open operculum"},{"code":"HP:0004482","display":"Relative macrocephaly"},{"code":"HP:3000033","display":"Abnormal nasopharyngeal adenoid morphology"},{"code":"HP:0009062","display":"Infantile axial hypotonia"},{"code":"HP:0002189","display":"obsolete Excessive daytime sleepiness"},{"code":"HP:0002141","display":"Gait imbalance"},{"code":"HP:0012734","display":"Ketotic hypoglycemia"},{"code":"HP:0005968","display":"Temperature instability"},{"code":"HP:0012538","display":"Gluten intolerance"},{"code":"HP:0000979","display":"Purpura"},{"code":"HP:0001988","display":"Recurrent hypoglycemia"},{"code":"HP:0001488","display":"Bilateral ptosis"},{"code":"HP:0011229","display":"Broad eyebrow"},{"code":"HP:0004440","display":"Coronal craniosynostosis"},{"code":"HP:0004453","display":"Overfolding of the superior helices"},{"code":"HP:0012547","display":"Abnormal involuntary eye movements"},{"code":"HP:0100814","display":"Blue nevus"},{"code":"HP:0010751","display":"Dimple chin"},{"code":"HP:0007087","display":"obsolete Involuntary jerking movements"},{"code":"HP:0012498","display":"Nuchal cord"},{"code":"HP:0002472","display":"Small cerebral cortex"},{"code":"HP:0100307","display":"Cerebellar hemisphere hypoplasia"},{"code":"HP:0002151","display":"Increased serum lactate"},{"code":"HP:0001698","display":"Pericardial effusion"},{"code":"HP:0006903","display":"Congenital peripheral neuropathy"},{"code":"HP:0006895","display":"Lower limb hypertonia"},{"code":"HP:0002744","display":"Bilateral cleft lip and palate"},{"code":"HP:0010664","display":"Fusion of the left and right thalami"},{"code":"HP:0000327","display":"Hypoplasia of the maxilla"},{"code":"HP:0000474","display":"Thickened nuchal skin fold"},{"code":"HP:0000105","display":"Enlarged kidney"},{"code":"HP:0000113","display":"Polycystic kidney dysplasia"},{"code":"HP:0000104","display":"Renal agenesis"},{"code":"HP:0001362","display":"Calvarial skull defect"},{"code":"HP:0008245","display":"Pituitary hypothyroidism"},{"code":"HP:0001552","display":"Barrel-shaped chest"},{"code":"HP:0006297","display":"Hypoplasia of dental enamel"},{"code":"HP:0100023","display":"Recurrent hand flapping"},{"code":"HP:0005518","display":"Increased mean corpuscular volume"},{"code":"HP:0012418","display":"Hypoxemia"},{"code":"HP:0100259","display":"Postaxial polydactyly"},{"code":"HP:0010814","display":"Abnormal position of hair whorl"},{"code":"HP:0003764","display":"Nevus"},{"code":"HP:0000445","display":"Wide nose"},{"code":"HP:0010677","display":"Enuresis nocturna"},{"code":"HP:0001510","display":"Growth delay"},{"code":"HP:0012428","display":"Prominent calcaneus"},{"code":"HP:0012471","display":"Thick vermilion border"},{"code":"HP:0007110","display":"Central hypoventilation"},{"code":"HP:0010614","display":"Fibroma"},{"code":"HP:0001034","display":"Hypermelanotic macule"},{"code":"HP:0011365","display":"Patchy hypopigmentation of hair"},{"code":"HP:0001920","display":"Renal artery stenosis"},{"code":"HP:0002828","display":"Multiple joint contractures"},{"code":"HP:0002144","display":"Tethered cord"},{"code":"HP:0010964","display":"Abnormal circulating long-chain fatty-acid concentration"},{"code":"HP:0010536","display":"Central sleep apnea"},{"code":"HP:0011262","display":"Crimped helix"},{"code":"HP:0040079","display":"Irregular dentition"},{"code":"HP:0011481","display":"Abnormal lacrimal duct morphology"},{"code":"HP:0000220","display":"Velopharyngeal insufficiency"},{"code":"HP:0002153","display":"Hyperkalemia"},{"code":"HP:0002148","display":"Hypophosphatemia"},{"code":"HP:0012621","display":"Persistent cloaca"},{"code":"HP:0000867","display":"Secondary hyperparathyroidism"},{"code":"HP:0003762","display":"Uterus didelphys"},{"code":"HP:0100512","display":"Low levels of vitamin D"},{"code":"HP:0012156","display":"Hemophagocytosis"},{"code":"HP:0008209","display":"Premature ovarian insufficiency"},{"code":"HP:0004349","display":"Reduced bone mineral density"},{"code":"HP:0001924","display":"Sideroblastic anemia"},{"code":"HP:0011703","display":"Sinus tachycardia"},{"code":"HP:0010609","display":"Skin tags"},{"code":"HP:0002725","display":"Systemic lupus erythematosus"},{"code":"HP:0003193","display":"Allergic rhinitis"},{"code":"HP:0006896","display":"Hypnopompic hallucinations"},{"code":"HP:0002524","display":"Cataplexy"},{"code":"HP:0005227","display":"Adenomatous colonic polyposis"},{"code":"HP:0012173","display":"Orthostatic tachycardia"},{"code":"HP:0001271","display":"Polyneuropathy"},{"code":"HP:0009120","display":"Aplasia/Hypoplasia involving the sinuses"},{"code":"HP:0000625","display":"Eyelid coloboma"},{"code":"HP:0009754","display":"Fibrous syngnathia"},{"code":"HP:0012478","display":"Temporomandibular joint ankylosis"},{"code":"HP:0001233","display":"2-3 finger syndactyly"},{"code":"HP:0000811","display":"Abnormal external genitalia"},{"code":"HP:0005120","display":"Abnormal cardiac atrium morphology"},{"code":"HP:0008388","display":"Abnormal toenail morphology"},{"code":"HP:0011467","display":"Absent gallbladder"},{"code":"HP:0010760","display":"Absent toe"},{"code":"HP:0001545","display":"Anteriorly placed anus"},{"code":"HP:0001640","display":"Cardiomegaly"},{"code":"HP:0002990","display":"Fibular aplasia"},{"code":"HP:0004443","display":"Lambdoidal craniosynostosis"},{"code":"HP:0008569","display":"Microtia, second degree"},{"code":"HP:0006277","display":"Pancreatic hyperplasia"},{"code":"HP:0010445","display":"Primum atrial septal defect"},{"code":"HP:0011640","display":"Single coronary artery origin"},{"code":"HP:0011608","display":"Type II truncus arteriosus"},{"code":"HP:0011327","display":"Posterior plagiocephaly"},{"code":"HP:0007655","display":"Eversion of lateral third of lower eyelids"},{"code":"HP:0010747","display":"Medial flaring of the eyebrow"},{"code":"HP:0005957","display":"Breathing dysregulation"},{"code":"HP:0000992","display":"Cutaneous photosensitivity"},{"code":"HP:0011995","display":"Atrial septal dilatation"},{"code":"HP:0000377","display":"Abnormality of the pinna"},{"code":"HP:0011266","display":"Microtia, first degree"},{"code":"HP:0012650","display":"Perisylvian polymicrogyria"},{"code":"HP:0004970","display":"Ascending tubular aorta aneurysm"},{"code":"HP:0008348","display":"Decreased circulating IgG2 level"},{"code":"HP:0012115","display":"Hepatitis"},{"code":"HP:0006979","display":"Sleep-wake cycle disturbance"},{"code":"HP:0008587","display":"Mild neurosensory hearing impairment"},{"code":"HP:0006097","display":"3-4 finger syndactyly"},{"code":"HP:0005263","display":"Gastritis"},{"code":"HP:0200043","display":"Verrucae"},{"code":"HP:0009600","display":"Flexion contracture of thumb"},{"code":"HP:0010818","display":"Generalized tonic seizure"},{"code":"HP:0002599","display":"Head titubation"},{"code":"HP:0002090","display":"Pneumonia"},{"code":"HP:0030423","display":"Splenic cyst"},{"code":"HP:0030187","display":"Titubation"},{"code":"HP:0002375","display":"Hypokinesia"},{"code":"HP:0007166","display":"Paroxysmal dyskinesia"},{"code":"HP:0003077","display":"Hyperlipidemia"},{"code":"HP:0000017","display":"Nocturia"},{"code":"HP:0100555","display":"Asymmetric growth"},{"code":"HP:0011847","display":"Giant cell tumor of bone"},{"code":"HP:0000112","display":"Nephropathy"},{"code":"HP:0000246","display":"Sinusitis"},{"code":"HP:0001012","display":"Multiple lipomas"},{"code":"HP:0000851","display":"Congenital hypothyroidism"},{"code":"HP:0002345","display":"Action tremor"},{"code":"HP:0002677","display":"Small foramen magnum"},{"code":"HP:0011947","display":"Respiratory tract infection"},{"code":"HP:0012151","display":"Hemothorax"},{"code":"HP:0005988","display":"Congenital muscular torticollis"},{"code":"HP:0002329","display":"Drowsiness"},{"code":"HP:0012395","display":"Seasonal allergy"},{"code":"HP:0011679","display":"Tetralogy of Fallot with pulmonary stenosis"},{"code":"HP:0001864","display":"Clinodactyly of the 5th toe"},{"code":"HP:0006934","display":"Congenital nystagmus"},{"code":"HP:0100355","display":"Contractures of the distal interphalangeal joint of the 5th toe"},{"code":"HP:0007894","display":"Hypopigmentation of the fundus"},{"code":"HP:0012377","display":"Hemianopia"},{"code":"HP:0002354","display":"Memory impairment"},{"code":"HP:0000872","display":"Hashimoto thyroiditis"},{"code":"HP:0002519","display":"Hypnagogic hallucinations"},{"code":"HP:0010647","display":"Abnormal elasticity of skin"},{"code":"HP:0002592","display":"Gastric ulcer"},{"code":"HP:0004938","display":"Tortuous cerebral arteries"},{"code":"HP:0004948","display":"Vascular tortuosity"},{"code":"HP:0002516","display":"Increased intracranial pressure"},{"code":"HP:0006460","display":"Increased laxity of ankles"},{"code":"HP:0002317","display":"Unsteady gait"},{"code":"HP:0000182","display":"Movement abnormality of the tongue"},{"code":"HP:0009887","display":"Abnormality of hair pigmentation"},{"code":"HP:0005824","display":"Clinodactyly of the 2nd toe"},{"code":"HP:0002212","display":"Curly hair"},{"code":"HP:0009803","display":"Short phalanx of finger"},{"code":"HP:0000572","display":"Visual loss"},{"code":"HP:0005216","display":"Impaired mastication"},{"code":"HP:0000619","display":"Impaired convergence"},{"code":"HP:0002403","display":"Positive Romberg sign"},{"code":"HP:0008744","display":"Abnormal aryepiglottic fold morphology"},{"code":"HP:0002374","display":"Diminished movement"},{"code":"HP:0008277","display":"Abnormal blood zinc concentration"},{"code":"HP:0012781","display":"Mid-frequency hearing loss"},{"code":"HP:0100758","display":"Gangrene"},{"code":"HP:0003256","display":"Abnormality of the coagulation cascade"},{"code":"HP:0004387","display":"Enterocolitis"},{"code":"HP:0011029","display":"Internal hemorrhage"},{"code":"HP:0011649","display":"Patent ductus arteriosus after premature birth"},{"code":"HP:0012050","display":"Anasarca"},{"code":"HP:0001683","display":"Ectopia cordis"},{"code":"HP:0011682","display":"Perimembranous ventricular septal defect"},{"code":"HP:0010624","display":"Aplastic/hypoplastic toenail"},{"code":"HP:0002705","display":"High, narrow palate"},{"code":"HP:0011340","display":"Incomplete cleft of the upper lip"},{"code":"HP:0011613","display":"Interrupted aortic arch type B"},{"code":"HP:0006167","display":"Prominent proximal interphalangeal joints"},{"code":"HP:0002918","display":"Hypermagnesemia"},{"code":"HP:0011937","display":"Hypoplastic fifth toenail"},{"code":"HP:0001067","display":"Neurofibromas"},{"code":"HP:0011403","display":"Abnormal umbilical cord blood vessels"},{"code":"HP:0003316","display":"Butterfly vertebrae"},{"code":"HP:0002247","display":"Duodenal atresia"},{"code":"HP:0008439","display":"Lumbar hemivertebrae"},{"code":"HP:0011599","display":"Mesocardia"},{"code":"HP:0008467","display":"Thoracic hemivertebrae"},{"code":"HP:0004626","display":"Lumbar scoliosis"},{"code":"HP:0006808","display":"Cerebral hypomyelination"},{"code":"HP:0002926","display":"Abnormality of thyroid physiology"},{"code":"HP:0007970","display":"Congenital ptosis"}]}},{"name":"cache-id","valueId":"1c60316b-3cd4-49c3-ae27-260ce5c62c93"},{"name":"valueSet","resource":{"resourceType":"ValueSet","status":"active","compose":{"inactive":true,"include":[{"system":"http://purl.obolibrary.org/obo/hp.owl","concept":[{"code":"HP:0010772","display":"Anomalous pulmonary venous return"}]}]}}},{"name":"_limit","valueString":"1000"},{"name":"_incomplete","valueString":"true"}]}


Response: 

422
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
connection:keep-alive
content-length:601
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:09:17 GMT
server:nginx
x-request-id:32-575395

{"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "
The code system definition for http://purl.obolibrary.org/obo/hp.owl is a fragment, so this expansion is not permitted unless the expansion parameter \"incomplete-ok\" has a value of \"true\"
"},"issue" : [{"severity" : "error","code" : "invalid","details" : {"text" : "The code system definition for http://purl.obolibrary.org/obo/hp.owl is a fragment, so this expansion is not permitted unless the expansion parameter \"incomplete-ok\" has a value of \"true\""}}]}

--- 7 -----------------
Request: 

POST http://tx.fhir.org/r4/ValueSet/$expand?_limit=1000&_incomplete=true HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"includeDefinition","valueBoolean":false},{"name":"excludeNested","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","status":"active","compose":{"inactive":true,"include":[{"system":"http://purl.obolibrary.org/obo/mondo.owl","concept":[{"code":"0017705","display":"congenital pulmonary venous return anomaly"},{"code":"0007130","display":"congenital total pulmonary venous return anomaly"}]}]}}},{"name":"_limit","valueString":"1000"},{"name":"_incomplete","valueString":"true"}]}


Response: 

422
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
connection:keep-alive
content-length:389
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:09:18 GMT
server:nginx
x-request-id:32-575398

{"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "
Unable to provide support for code system http://purl.obolibrary.org/obo/mondo.owl
"},"issue" : [{"severity" : "error","code" : "not-supported","details" : {"text" : "Unable to provide support for code system http://purl.obolibrary.org/obo/mondo.owl"}}]}

--- 8 -----------------
Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://example.org/my-dataset/fhir/codesystem/research-encounter-class","code":"survey"}},{"name":"displayLanguage","valueString":"en, en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:638
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:09:22 GMT
last-modified:Fri, 15 Sep 2023 21:09:22 GMT
pragma:no-cache
server:nginx
x-request-id:32-575408

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : false},{"name" : "x-caused-by-unknown-system","valueCanonical" : "http://example.org/my-dataset/fhir/codesystem/research-encounter-class"},{"name" : "message","valueString" : "The CodeSystem http://example.org/my-dataset/fhir/codesystem/research-encounter-class is unknown"},{"name" : "issues","resource" : {"resourceType" : "OperationOutcome","issue" : [{"severity" : "error","code" : "not-found","details" : {"text" : "The CodeSystem http://example.org/my-dataset/fhir/codesystem/research-encounter-class is unknown"},"location" : ["Coding.system"]}]}}]}

--- 9 -----------------
Request: 

POST http://tx.fhir.org/r4/ValueSet/$expand?_limit=1000&_incomplete=true HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"includeDefinition","valueBoolean":false},{"name":"excludeNested","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","status":"active","compose":{"inactive":true,"include":[{"system":"https://uts.nlm.nih.gov/uts/umls","concept":[{"code":"C99269","display":"Case"},{"code":"C99270","display":"Control"}]}]}}},{"name":"_limit","valueString":"1000"},{"name":"_incomplete","valueString":"true"}]}


Response: 

422
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
connection:keep-alive
content-length:373
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:09:22 GMT
server:nginx
x-request-id:32-575412

{"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "
Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls
"},"issue" : [{"severity" : "error","code" : "not-supported","details" : {"text" : "Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls"}}]}

--- 10 -----------------
Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unitsofmeasure.org","code":"kg/m2"}},{"name":"displayLanguage","valueString":"en, en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:235
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:09:27 GMT
last-modified:Fri, 15 Sep 2023 21:09:27 GMT
pragma:no-cache
server:nginx
x-request-id:32-575420

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://unitsofmeasure.org"},{"name" : "code","valueCode" : "kg/m2"},{"name" : "version","valueString" : "2.0.1"}]}

--- 11 -----------------
Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unitsofmeasure.org","code":"uL"}},{"name":"displayLanguage","valueString":"en, en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:232
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:09:31 GMT
last-modified:Fri, 15 Sep 2023 21:09:31 GMT
pragma:no-cache
server:nginx
x-request-id:32-575429

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://unitsofmeasure.org"},{"name" : "code","valueCode" : "uL"},{"name" : "version","valueString" : "2.0.1"}]}

--- 12 -----------------
Request: 

POST http://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unstats.un.org/unsd/methods/m49/m49.htm","code":"001"}},{"name":"valueSetMode","valueString":"CHECK_MEMERSHIP_ONLY"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","url":"http://hl7.org/fhir/ValueSet/jurisdiction--2","version":"4.0.1","status":"active","compose":{"include":[{"system":"http://unstats.un.org/unsd/methods/m49/m49.htm","filter":[{"property":"class","op":"=","value":"region"}]}]}}},{"name":"cache-id","valueId":"1c60316b-3cd4-49c3-ae27-260ce5c62c93"},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:254
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:09:40 GMT
last-modified:Fri, 15 Sep 2023 21:09:40 GMT
pragma:no-cache
server:nginx
x-request-id:32-575445

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://unstats.un.org/unsd/methods/m49/m49.htm"},{"name" : "code","valueCode" : "001"},{"name" : "display","valueString" : "World"}]}

--- 13 -----------------
Request: 

POST http://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unstats.un.org/unsd/methods/m49/m49.htm","code":"001"}},{"name":"valueSetMode","valueString":"NO_MEMBERSHIP_CHECK"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"jurisdiction","meta":{"lastUpdated":"2019-11-01T09:29:23.356+11:00","profile":["http://hl7.org/fhir/StructureDefinition/shareablevalueset"]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-wg","valueCode":"vocab"},{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status","valueCode":"normative"},{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm","valueInteger":5},{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-normative-version","valueCode":"4.0.0"}],"url":"http://hl7.org/fhir/ValueSet/jurisdiction","identifier":[{"system":"urn:ietf:rfc:3986","value":"urn:oid:2.16.840.1.113883.4.642.3.48"}],"version":"4.0.1","name":"Jurisdiction ValueSet","title":"Jurisdiction","status":"active","experimental":false,"date":"2019-11-01T09:29:23+11:00","publisher":"FHIR Project team","contact":[{"telecom":[{"system":"url","value":"http://hl7.org/fhir"}]}],"description":"This value set defines a base set of codes for country, country subdivision and region    for indicating where a resource is intended to be used.   \r\n   \r\n   Note: The codes for countries and country subdivisions are taken from    [ISO 3166](https://www.iso.org/iso-3166-country-codes.html)    while the codes for \"supra-national\" regions are from    [UN Standard country or area codes for statistical use (M49)](http://unstats.un.org/unsd/methods/m49/m49.htm).","compose":{"include":[{"system":"urn:iso:std:iso:3166"},{"system":"urn:iso:std:iso:3166:-2"},{"system":"http://unstats.un.org/unsd/methods/m49/m49.htm","filter":[{"property":"class","op":"=","value":"region"}]}]}}},{"name":"cache-id","valueId":"1c60316b-3cd4-49c3-ae27-260ce5c62c93"},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:254
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:09:40 GMT
last-modified:Fri, 15 Sep 2023 21:09:40 GMT
pragma:no-cache
server:nginx
x-request-id:32-575446

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://unstats.un.org/unsd/methods/m49/m49.htm"},{"name" : "code","valueCode" : "001"},{"name" : "display","valueString" : "World"}]}

--- 14 -----------------
Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unstats.un.org/unsd/methods/m49/m49.htm","code":"001"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:254
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:09:40 GMT
last-modified:Fri, 15 Sep 2023 21:09:40 GMT
pragma:no-cache
server:nginx
x-request-id:32-575447

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://unstats.un.org/unsd/methods/m49/m49.htm"},{"name" : "code","valueCode" : "001"},{"name" : "display","valueString" : "World"}]}

--- 15 -----------------
Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"https://uts.nlm.nih.gov/uts/umls","code":"C2348584"}},{"name":"displayLanguage","valueString":"en, en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:524
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:09:45 GMT
last-modified:Fri, 15 Sep 2023 21:09:45 GMT
pragma:no-cache
server:nginx
x-request-id:32-575451

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : false},{"name" : "x-caused-by-unknown-system","valueCanonical" : "https://uts.nlm.nih.gov/uts/umls"},{"name" : "message","valueString" : "The CodeSystem https://uts.nlm.nih.gov/uts/umls is unknown"},{"name" : "issues","resource" : {"resourceType" : "OperationOutcome","issue" : [{"severity" : "error","code" : "not-found","details" : {"text" : "The CodeSystem https://uts.nlm.nih.gov/uts/umls is unknown"},"location" : ["Coding.system"]}]}}]}

--- 16 -----------------
Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"LP35925-4"}},{"name":"displayLanguage","valueString":"en, en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:229
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:09:45 GMT
last-modified:Fri, 15 Sep 2023 21:09:45 GMT
pragma:no-cache
server:nginx
x-request-id:32-575452

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "LP35925-4"},{"name" : "version","valueString" : "2.74"}]}

--- 17 -----------------
Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://purl.obolibrary.org/obo/mondo.owl","code":"0017705"}},{"name":"displayLanguage","valueString":"en, en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:548
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:09:45 GMT
last-modified:Fri, 15 Sep 2023 21:09:45 GMT
pragma:no-cache
server:nginx
x-request-id:32-575453

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : false},{"name" : "x-caused-by-unknown-system","valueCanonical" : "http://purl.obolibrary.org/obo/mondo.owl"},{"name" : "message","valueString" : "The CodeSystem http://purl.obolibrary.org/obo/mondo.owl is unknown"},{"name" : "issues","resource" : {"resourceType" : "OperationOutcome","issue" : [{"severity" : "error","code" : "not-found","details" : {"text" : "The CodeSystem http://purl.obolibrary.org/obo/mondo.owl is unknown"},"location" : ["Coding.system"]}]}}]}

--- 18 -----------------
Request: 

POST http://tx.fhir.org/r4/ HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Bundle","type":"batch","entry":[{"resource":{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"LP35925-4"}},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"datatable-mappings-valueset-1","text":{"status":"generated","div":"
This value set includes codes based on the following rules:
Include these codes as defined in https://uts.nlm.nih.gov/uts/umls
Code
Display
C2348584
Subject Unique Identifier
C0079399
Gender
C168843
Age in Days at Enrollment
C1305855
Body mass index
C0872128
case control
Include these codes as defined in http://loinc.org
Code
Display
LP35925-4
Body mass index (BMI)
Include these codes as defined in http://purl.obolibrary.org/obo/hp.owl
Code
Display
HP:0010772
Anomalous pulmonary venous return
Include these codes as defined in http://purl.obolibrary.org/obo/mondo.owl
Code
Display
0017705
congenital pulmonary venous return anomaly
0007130
congenital total pulmonary venous return anomaly
"},"url":"https://nih-ncpi.github.io/ncpi-fhir-ig/ValueSet/datatable-mappings-valueset-1","version":"0.2.0","name":"ExampleStudyTableMappingsVS1","title":"Harmonized ValueSet for data table","status":"active","date":"2023-09-15T21:08:17+00:00","publisher":"NCPI FHIR Working Group","contact":[{"name":"NCPI FHIR Working Group","telecom":[{"system":"url","value":"https://github.com/nih-ncpi"}]},{"name":"Meen Chul Kim","telecom":[{"system":"email","value":"meenchul@d3b.center","use":"work"}]}],"description":"Public codes mapped from example dataset\n\nThe codes used below were chosen purely for example's sake and are in no way an endorsement or suggestion for terms that should be used in a real data-dictionary.","compose":{"include":[{"system":"https://uts.nlm.nih.gov/uts/umls","concept":[{"code":"C2348584","display":"Subject Unique Identifier"},{"code":"C0079399","display":"Gender"},{"code":"C168843","display":"Age in Days at Enrollment"},{"code":"C1305855","display":"Body mass index"},{"code":"C0872128","display":"case control"}]},{"system":"http://loinc.org","concept":[{"code":"LP35925-4","display":"Body mass index (BMI)"}]},{"system":"http://purl.obolibrary.org/obo/hp.owl","concept":[{"code":"HP:0010772","display":"Anomalous pulmonary venous return"}]},{"system":"http://purl.obolibrary.org/obo/mondo.owl","concept":[{"code":"0017705","display":"congenital pulmonary venous return anomaly"},{"code":"0007130","display":"congenital total pulmonary venous return anomaly"}]}]}}},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}},{"name":"displayLanguage","valueString":"en, en-US"},{"name":"default-to-latest-version","valueBoolean":true}]},"request":{"method":"POST","url":"ValueSet/$validate-code"}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:446
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:09:45 GMT
last-modified:Fri, 15 Sep 2023 21:09:45 GMT
pragma:no-cache
server:nginx
x-request-id:32-575455

{"resourceType" : "Bundle","id" : "f620ee80-307a-4f49-a6a2-10816a50cd17","type" : "batch-response","entry" : [{"resource" : {"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "LP35925-4"},{"name" : "version","valueString" : "2.74"}]},"response" : {"status" : "200","etag" : "W/","lastModified" : "2023-09-15T21:09:45.581Z"}}]}

--- 19 -----------------
Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://snomed.info/sct","code":"44807982","display":"Participant in research study"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:1392
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:09:53 GMT
last-modified:Fri, 15 Sep 2023 21:09:53 GMT
pragma:no-cache
server:nginx
x-request-id:32-575466

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : false},{"name" : "message","valueString" : "Unable to find code 44807982 in http://snomed.info/sct (version http://snomed.info/sct/900000000000207008/version/20230901); Unknown Code '44807982' in the system 'http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20230901'; The provided code 'http://snomed.info/sct#44807982' is not in the value set 'http://hl7.org/fhir/ValueSet/@all'"},{"name" : "issues","resource" : {"resourceType" : "OperationOutcome","issue" : [{"severity" : "warning","code" : "not-found","details" : {"text" : "Unknown Code '44807982' in the system 'http://snomed.info/sct'"},"location" : ["Coding.code"]},{"severity" : "information","code" : "code-invalid","details" : {"text" : "Unable to find code 44807982 in http://snomed.info/sct (version http://snomed.info/sct/900000000000207008/version/20230901)"},"location" : ["Coding"]},{"severity" : "error","code" : "code-invalid","details" : {"text" : "Unknown Code '44807982' in the system 'http://snomed.info/sct|http://snomed.info/sct/900000000000207008/version/20230901'"},"location" : ["Coding.code"]},{"severity" : "error","code" : "code-invalid","details" : {"text" : "The provided code 'http://snomed.info/sct#44807982' is not in the value set 'http://hl7.org/fhir/ValueSet/@all'"},"location" : ["Coding"]}]}}]}

--- 20 -----------------
Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/example-study-data-dictionary-dataset-codesystem-1","code":"demographics","display":"Demographic data"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:731
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:09:59 GMT
last-modified:Fri, 15 Sep 2023 21:09:59 GMT
pragma:no-cache
server:nginx
x-request-id:32-575474

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : false},{"name" : "x-caused-by-unknown-system","valueCanonical" : "https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/example-study-data-dictionary-dataset-codesystem-1"},{"name" : "message","valueString" : "The CodeSystem https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/example-study-data-dictionary-dataset-codesystem-1 is unknown"},{"name" : "issues","resource" : {"resourceType" : "OperationOutcome","issue" : [{"severity" : "error","code" : "not-found","details" : {"text" : "The CodeSystem https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/example-study-data-dictionary-dataset-codesystem-1 is unknown"},"location" : ["Coding.system"]}]}}]}

--- 21 -----------------
Request: 

POST http://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"81247-9"}},{"name":"valueSetMode","valueString":"CHECK_MEMERSHIP_ONLY"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","url":"http://hl7.org/fhir/ValueSet/report-codes--0","version":"4.0.1","status":"active","compose":{"include":[{"system":"http://loinc.org"}]}}},{"name":"cache-id","valueId":"1c60316b-3cd4-49c3-ae27-260ce5c62c93"},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:309
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:01 GMT
last-modified:Fri, 15 Sep 2023 21:10:01 GMT
pragma:no-cache
server:nginx
x-request-id:32-575479

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "81247-9"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Master HL7 genetic variant reporting panel"}]}

--- 22 -----------------
Request: 

POST http://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"81247-9","display":"Master HL7 genetic variant reporting panel"}},{"name":"valueSetMode","valueString":"NO_MEMBERSHIP_CHECK"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"report-codes","meta":{"lastUpdated":"2019-11-01T09:29:23.356+11:00","profile":["http://hl7.org/fhir/StructureDefinition/shareablevalueset"]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-wg","valueCode":"oo"}],"url":"http://hl7.org/fhir/ValueSet/report-codes","identifier":[{"system":"urn:ietf:rfc:3986","value":"urn:oid:2.16.840.1.113883.4.642.3.233"}],"version":"4.0.1","name":"LOINCDiagnosticReportCodes","title":"LOINC Diagnostic Report Codes","status":"draft","experimental":false,"date":"2019-11-01T09:29:23+11:00","publisher":"FHIR Project team","contact":[{"telecom":[{"system":"url","value":"http://hl7.org/fhir"}]}],"description":"This value set includes LOINC codes that relate to Diagnostic Observations.","copyright":"This content from LOINC® is copyright © 1995 Regenstrief Institute, Inc. and the LOINC Committee, and available at no cost under the license at http://loinc.org/terms-of-use.","compose":{"include":[{"system":"http://loinc.org"}]}}},{"name":"cache-id","valueId":"1c60316b-3cd4-49c3-ae27-260ce5c62c93"},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:309
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:01 GMT
last-modified:Fri, 15 Sep 2023 21:10:01 GMT
pragma:no-cache
server:nginx
x-request-id:32-575480

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "81247-9"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Master HL7 genetic variant reporting panel"}]}

--- 23 -----------------
Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"81247-9"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:309
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:01 GMT
last-modified:Fri, 15 Sep 2023 21:10:01 GMT
pragma:no-cache
server:nginx
x-request-id:32-575481

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "81247-9"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Master HL7 genetic variant reporting panel"}]}

--- 24 -----------------
Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unitsofmeasure.org","code":"TR"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:274
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:01 GMT
last-modified:Fri, 15 Sep 2023 21:10:01 GMT
pragma:no-cache
server:nginx
x-request-id:32-575482

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://unitsofmeasure.org"},{"name" : "code","valueCode" : "TR"},{"name" : "version","valueString" : "2.0.1"},{"name" : "display","valueString" : "TR"}]}

--- 25 -----------------
Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"69548-6","display":"Genetic variant assessment"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:293
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:01 GMT
last-modified:Fri, 15 Sep 2023 21:10:01 GMT
pragma:no-cache
server:nginx
x-request-id:32-575483

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "69548-6"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Genetic variant assessment"}]}

--- 26 -----------------
Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"LA9633-4","display":"Present"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:275
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:01 GMT
last-modified:Fri, 15 Sep 2023 21:10:01 GMT
pragma:no-cache
server:nginx
x-request-id:32-575484

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "LA9633-4"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Present"}]}

--- 27 -----------------
Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"LA26398-0","display":"Sequencing"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:279
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:01 GMT
last-modified:Fri, 15 Sep 2023 21:10:01 GMT
pragma:no-cache
server:nginx
x-request-id:32-575485

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "LA26398-0"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Sequencing"}]}

--- 28 -----------------
Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"48018-6","display":"Gene studied ID"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:284
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:01 GMT
last-modified:Fri, 15 Sep 2023 21:10:01 GMT
pragma:no-cache
server:nginx
x-request-id:32-575486

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "48018-6"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Gene studied [ID]"}]}

--- 29 -----------------
Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"48001-2","display":"Cytogenetic (chromosome) location"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:300
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:01 GMT
last-modified:Fri, 15 Sep 2023 21:10:01 GMT
pragma:no-cache
server:nginx
x-request-id:32-575487

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "48001-2"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Cytogenetic (chromosome) location"}]}

--- 30 -----------------
Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"69547-8","display":"Genomic ref allele [ID]"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:290
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:01 GMT
last-modified:Fri, 15 Sep 2023 21:10:01 GMT
pragma:no-cache
server:nginx
x-request-id:32-575488

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "69547-8"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Genomic ref allele [ID]"}]}

--- 31 -----------------
Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"69551-0","display":"Genomic alt allele [ID]"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:290
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:01 GMT
last-modified:Fri, 15 Sep 2023 21:10:01 GMT
pragma:no-cache
server:nginx
x-request-id:32-575489

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "69551-0"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Genomic alt allele [ID]"}]}

--- 32 -----------------
Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"53034-5","display":"Allelic state"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:280
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:02 GMT
last-modified:Fri, 15 Sep 2023 21:10:01 GMT
pragma:no-cache
server:nginx
x-request-id:32-575490

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "53034-5"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Allelic state"}]}

--- 33 -----------------
Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"LA6706-1","display":"Heterozygous"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:280
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:02 GMT
last-modified:Fri, 15 Sep 2023 21:10:02 GMT
pragma:no-cache
server:nginx
x-request-id:32-575491

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "LA6706-1"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Heterozygous"}]}

--- 34 -----------------
Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"62374-4","display":"Human reference sequence assembly version"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:308
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:02 GMT
last-modified:Fri, 15 Sep 2023 21:10:02 GMT
pragma:no-cache
server:nginx
x-request-id:32-575493

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "62374-4"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Human reference sequence assembly version"}]}

--- 35 -----------------
Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"LA14029-5","display":"GRCh37"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:275
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:02 GMT
last-modified:Fri, 15 Sep 2023 21:10:02 GMT
pragma:no-cache
server:nginx
x-request-id:32-575494

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "LA14029-5"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "GRCh37"}]}

--- 36 -----------------
Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"51958-7","display":"Transcript reference sequence [ID]"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:301
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:02 GMT
last-modified:Fri, 15 Sep 2023 21:10:02 GMT
pragma:no-cache
server:nginx
x-request-id:32-575495

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "51958-7"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Transcript reference sequence [ID]"}]}

--- 37 -----------------
Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"48004-6","display":"DNA change (c.HGVS)"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:286
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:02 GMT
last-modified:Fri, 15 Sep 2023 21:10:02 GMT
pragma:no-cache
server:nginx
x-request-id:32-575496

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "48004-6"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "DNA change (c.HGVS)"}]}

--- 38 -----------------
Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://varnomen.hgvs.org","code":"c.1640A>G","display":"c.1640A>G"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

422
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
connection:keep-alive
content-length:293
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:02 GMT
server:nginx
x-request-id:32-575499

{"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "
HGVS is not supported at this time
"},"issue" : [{"severity" : "error","code" : "not-supported","details" : {"text" : "HGVS is not supported at this time"}}]}

--- 39 -----------------
Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"53037-8","display":"Genetic variation clinical significance [Imp]"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:312
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:02 GMT
last-modified:Fri, 15 Sep 2023 21:10:02 GMT
pragma:no-cache
server:nginx
x-request-id:32-575500

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "53037-8"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Genetic variation clinical significance [Imp]"}]}

--- 40 -----------------
Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"LA6682-4","display":"Unknown Significance"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:288
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:02 GMT
last-modified:Fri, 15 Sep 2023 21:10:02 GMT
pragma:no-cache
server:nginx
x-request-id:32-575502

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "LA6682-4"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Unknown Significance"}]}

--- 41 -----------------
Request: 

POST http://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unitsofmeasure.org","code":"kg/m2"}},{"name":"valueSetMode","valueString":"CHECK_MEMERSHIP_ONLY"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","url":"http://hl7.org/fhir/ValueSet/ucum-units--0","version":"4.0.1","status":"active","compose":{"include":[{"system":"http://unitsofmeasure.org"}]}}},{"name":"cache-id","valueId":"1c60316b-3cd4-49c3-ae27-260ce5c62c93"},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:280
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:02 GMT
last-modified:Fri, 15 Sep 2023 21:10:02 GMT
pragma:no-cache
server:nginx
x-request-id:32-575503

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://unitsofmeasure.org"},{"name" : "code","valueCode" : "kg/m2"},{"name" : "version","valueString" : "2.0.1"},{"name" : "display","valueString" : "kg/m2"}]}

--- 42 -----------------
Request: 

POST http://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unitsofmeasure.org","code":"kg/m2"}},{"name":"valueSetMode","valueString":"NO_MEMBERSHIP_CHECK"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"ucum-units","meta":{"lastUpdated":"2019-11-01T09:29:23.356+11:00","profile":["http://hl7.org/fhir/StructureDefinition/shareablevalueset"]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-wg","valueCode":"fhir"},{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status","valueCode":"trial-use"},{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm","valueInteger":0}],"url":"http://hl7.org/fhir/ValueSet/ucum-units","identifier":[{"system":"urn:ietf:rfc:3986","value":"urn:oid:2.16.840.1.113883.4.642.3.912"}],"version":"4.0.1","name":"UCUMCodes","title":"UCUM Codes","status":"draft","experimental":false,"date":"2019-11-01T09:29:23+11:00","publisher":"FHIR Project team","contact":[{"telecom":[{"system":"url","value":"http://hl7.org/fhir"}]}],"description":"Unified Code for Units of Measure (UCUM). This value set includes all UCUM codes","copyright":"The UCUM codes, UCUM table (regardless of format), and UCUM Specification are copyright © 1999-2009, Regenstrief Institute, Inc. and the Unified Codes for Units of Measures (UCUM) Organization. All rights reserved.","compose":{"include":[{"system":"http://unitsofmeasure.org"}]}}},{"name":"cache-id","valueId":"1c60316b-3cd4-49c3-ae27-260ce5c62c93"},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:280
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:02 GMT
last-modified:Fri, 15 Sep 2023 21:10:02 GMT
pragma:no-cache
server:nginx
x-request-id:32-575504

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://unitsofmeasure.org"},{"name" : "code","valueCode" : "kg/m2"},{"name" : "version","valueString" : "2.0.1"},{"name" : "display","valueString" : "kg/m2"}]}

--- 43 -----------------
Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unitsofmeasure.org","code":"kg/m2"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:280
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:02 GMT
last-modified:Fri, 15 Sep 2023 21:10:02 GMT
pragma:no-cache
server:nginx
x-request-id:32-575505

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://unitsofmeasure.org"},{"name" : "code","valueCode" : "kg/m2"},{"name" : "version","valueString" : "2.0.1"},{"name" : "display","valueString" : "kg/m2"}]}

--- 44 -----------------
Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unitsofmeasure.org","code":"uL"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:274
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:03 GMT
last-modified:Fri, 15 Sep 2023 21:10:03 GMT
pragma:no-cache
server:nginx
x-request-id:32-575506

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://unitsofmeasure.org"},{"name" : "code","valueCode" : "uL"},{"name" : "version","valueString" : "2.0.1"},{"name" : "display","valueString" : "uL"}]}

--- 45 -----------------
Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://snomed.info/sct","code":"129314006","display":"Biopsy - action"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:344
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:03 GMT
last-modified:Fri, 15 Sep 2023 21:10:03 GMT
pragma:no-cache
server:nginx
x-request-id:32-575507

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://snomed.info/sct"},{"name" : "code","valueCode" : "129314006"},{"name" : "version","valueString" : "http://snomed.info/sct/900000000000207008/version/20230901"},{"name" : "display","valueString" : "Biopsy - action"}]}

--- 46 -----------------
Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://snomed.info/sct","code":"21483005","display":"Structure of central nervous system"}},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:350
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:03 GMT
last-modified:Fri, 15 Sep 2023 21:10:03 GMT
pragma:no-cache
server:nginx
x-request-id:32-575508

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://snomed.info/sct"},{"name" : "code","valueCode" : "21483005"},{"name" : "version","valueString" : "http://snomed.info/sct/900000000000207008/version/20230901"},{"name" : "display","valueString" : "Central nervous system"}]}

--- 47 -----------------
Request: 

POST http://tx.fhir.org/r4/ValueSet/$expand?_limit=1000&_incomplete=true HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"includeDefinition","valueBoolean":false},{"name":"excludeNested","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","status":"active","compose":{"inactive":true,"include":[{"system":"http://purl.obolibrary.org/obo/mondo.owl"}]}}},{"name":"_limit","valueString":"1000"},{"name":"_incomplete","valueString":"true"}]}


Response: 

422
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
connection:keep-alive
content-length:389
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:31 GMT
server:nginx
x-request-id:32-575532

{"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "
Unable to provide support for code system http://purl.obolibrary.org/obo/mondo.owl
"},"issue" : [{"severity" : "error","code" : "not-supported","details" : {"text" : "Unable to provide support for code system http://purl.obolibrary.org/obo/mondo.owl"}}]}

--- 48 -----------------
Request: 

POST http://tx.fhir.org/r4/ValueSet/$expand?_limit=1000&_incomplete=true HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"excludeNested","valueBoolean":false},{"name":"incomplete-ok","valueBoolean":true},{"name":"tx-resource","resource":{"resourceType":"CodeSystem","id":"omim","text":{"status":"generated","div":"
This case-sensitive code system https://omim.org/ provides a fragment that includes following codes:
Code
Display
OMIM:613801 
Retinitis pigmentosa-40
OMIM:213300 
Joubert syndrome 1
OMIM:615780 
Retinitis pigmentosa 69
OMIM:613826 
Leber congenital amaurosis 6
OMIM:310200 
Duchenne muscular dystrophy
OMIM:617194 
Lethal congenital contracture syndrome 11
OMIM:105400 
AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1
OMIM:108120 
ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A
OMIM:114300 
ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3
OMIM:115195 
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2
OMIM:115196 
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3; CMH3
OMIM:115197 
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4
OMIM:115200 
CARDIOMYOPATHY, DILATED, 1A; CMD1A
OMIM:117000 
CENTRAL CORE DISEASE OF MUSCLE; CCD
OMIM:117360 
SPINOCEREBELLAR ATAXIA 29; SCA29
OMIM:119530 
OROFACIAL CLEFT 1; OFC1
OMIM:122470 
CORNELIA DE LANGE SYNDROME 1; CDLS1
OMIM:130600 
ELLIPTOCYTOSIS 2; EL2
OMIM:135900 
COFFIN-SIRIS SYNDROME 1; CSS1
OMIM:136140 
FLOATING-HARBOR SYNDROME; FLHS
OMIM:137920 
RENAL CYSTS AND DIABETES SYNDROME; RCAD
OMIM:139090 
GRAY PLATELET SYNDROME; GPS
OMIM:139210 
MYHRE SYNDROME; MYHRS
OMIM:143095 
SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS; SEDCJD
OMIM:143465 
ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD
OMIM:147891 
ISCHIOCOXOPODOPATELLAR SYNDROME WITH OR WITHOUT PULMONARY ARTERIAL HYPERTENSION; ICPPS
OMIM:147920 
KABUKI SYNDROME 1; KABUK1
OMIM:148050 
KBG SYNDROME; KBGS
OMIM:149400 
HYPEREKPLEXIA 1; HKPX1
OMIM:152950 
MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR
OMIM:153670 
BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT; BSSA2
OMIM:154400 
ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1
OMIM:154700 
MARFAN SYNDROME; MFS
OMIM:155310 
VISCERAL MYOPATHY; VSCM
OMIM:158590 
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA; HMN2A
OMIM:158810 
BETHLEM MYOPATHY 1; BTHLM1
OMIM:159550 
ATAXIA-PANCYTOPENIA SYNDROME; ATXPC
OMIM:160150 
MYOPATHY, CENTRONUCLEAR, 1; CNM1
OMIM:160500 
MYOPATHY, DISTAL, 1; MPD1
OMIM:160800 
MYOTONIA CONGENITA, AUTOSOMAL DOMINANT
OMIM:160900 
MYOTONIC DYSTROPHY 1; DM1
OMIM:161800 
NEMALINE MYOPATHY 3; NEM3
OMIM:163950 
NOONAN SYNDROME 1; NS1
OMIM:178110 
CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A; CPSFS1A
OMIM:178500 
PULMONARY FIBROSIS, IDIOPATHIC; IPF
OMIM:180100 
RETINITIS PIGMENTOSA 1; RP1
OMIM:180849 
RUBINSTEIN-TAYBI SYNDROME 1; RSTS1
OMIM:181430 
SCAPULOPERONEAL MYOPATHY, MYH7-RELATED; SPMM
OMIM:182601 
SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4
OMIM:188000 
THROMBOCYTOPENIA 2; THC2
OMIM:191480 
UNCOMBABLE HAIR SYNDROME 1; UHS1
OMIM:203800 
ALSTROM SYNDROME; ALMS
OMIM:204200 
CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3
OMIM:204500 
CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2
OMIM:205100 
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2
OMIM:206900 
MICROPHTHALMIA, SYNDROMIC 3; MCOPS3
OMIM:208900 
ATAXIA-TELANGIECTASIA; AT
OMIM:209850 
AUTISM
OMIM:209900 
BARDET-BIEDL SYNDROME 1; BBS1
OMIM:210000 
BEHR SYNDROME; BEHRS
OMIM:210720 
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; MOPD2
OMIM:210900 
BLOOM SYNDROME; BLM
OMIM:212065 
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A
OMIM:212066 
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa; CDG2A
OMIM:214500 
CHEDIAK-HIGASHI SYNDROME; CHS
OMIM:214800 
CHARGE SYNDROME
OMIM:215500 
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR, 1; CACD1
OMIM:216400 
COCKAYNE SYNDROME A; CSA
OMIM:216550 
COHEN SYNDROME; COH1
OMIM:217080 
JALILI SYNDROME
OMIM:217980 
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE
OMIM:218340 
TEMTAMY SYNDROME; TEMTYS
OMIM:219200 
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A
OMIM:224050 
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1; CAMRQ1
OMIM:224690 
MEIER-GORLIN SYNDROME 1; MGORS1
OMIM:225753 
PONTOCEREBELLAR HYPOPLASIA, TYPE 4; PCH4
OMIM:225790 
PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME; PVHH
OMIM:227650 
FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA
OMIM:229600 
FRUCTOSE INTOLERANCE, HEREDITARY; HFI
OMIM:230000 
FUCOSIDOSIS
OMIM:230500 
GM1-GANGLIOSIDOSIS, TYPE I
OMIM:232300 
GLYCOGEN STORAGE DISEASE II; GSD2
OMIM:232600 
GLYCOGEN STORAGE DISEASE V; GSD5
OMIM:234200 
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1
OMIM:234500 
HARTNUP DISORDER; HND
OMIM:236000 
LYMPHOMA, HODGKIN, CLASSIC; CHL
OMIM:236600 
HYDROCEPHALUS, CONGENITAL, 1; HYC1
OMIM:236792 
L-2-HYDROXYGLUTARIC ACIDURIA; L2HGA
OMIM:243310 
BARAITSER-WINTER SYNDROME 1; BRWS1
OMIM:244450 
KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS
OMIM:245200 
KRABBE DISEASE
OMIM:245359 
missing
OMIM:248200 
STARGARDT DISEASE 1; STGD1
OMIM:248700 
MARDEN-WALKER SYNDROME; MWKS
OMIM:249000 
MECKEL SYNDROME, TYPE 1; MKS1
OMIM:249900 
METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY
OMIM:250100 
METACHROMATIC LEUKODYSTROPHY; MLD
OMIM:250620 
3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY; HIBCHD
OMIM:251200 
MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE; MCPH1
OMIM:251260 
NIJMEGEN BREAKAGE SYNDROME; NBS
OMIM:251280 
DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1; DMJDS1
OMIM:251290 
PSEUDO-TORCH SYNDROME 1; PTORCH1
OMIM:251300 
GALLOWAY-MOWAT SYNDROME 1; GAMOS1
OMIM:252010 
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1; MC1DN1
OMIM:252160 
MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B; MOCODB
OMIM:252920 
MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B
OMIM:253250 
MULIBREY NANISM
OMIM:253600 
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1; LGMDR1
OMIM:253601 
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2; LGMDR2
OMIM:253700 
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5; LGMDR5
OMIM:254090 
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1; UCMD1
OMIM:254110 
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8; LGMDR8
OMIM:254300 
MYASTHENIC SYNDROME, CONGENITAL, 10; CMS10
OMIM:254780 
MYOCLONIC EPILEPSY OF LAFORA
OMIM:254940 
CAREY-FINEMAN-ZITER SYNDROME; CFZS
OMIM:255310 
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD
OMIM:255320 
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
OMIM:255800 
SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1
OMIM:256000 
LEIGH SYNDROME; LS
OMIM:256300 
NEPHROTIC SYNDROME, TYPE 1; NPHS1
OMIM:256600 
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A
OMIM:256700 
NEUROBLASTOMA, SUSCEPTIBILITY TO, 1; NBLST1
OMIM:256730 
CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1
OMIM:256731 
CEROID LIPOFUSCINOSIS, NEURONAL, 5; CLN5
OMIM:256800 
INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS; CIPA
OMIM:256850 
GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE; GAN1
OMIM:257220 
NIEMANN-PICK DISEASE, TYPE C1; NPC1
OMIM:257320 
LISSENCEPHALY 2; LIS2
OMIM:260400 
SHWACHMAN-DIAMOND SYNDROME 1; SDS1
OMIM:260565 
PEHO SYNDROME; PEHO
OMIM:261630 
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C
OMIM:262500 
LARON SYNDROME
OMIM:263200 
POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD4
OMIM:265000 
MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS
OMIM:266100 
EPILEPSY, PYRIDOXINE-DEPENDENT; EPD
OMIM:266265 
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc; CDG2C
OMIM:266500 
REFSUM DISEASE, CLASSIC
OMIM:266510 
PEROXISOME BIOGENESIS DISORDER 3B; PBD3B
OMIM:268800 
SANDHOFF DISEASE
OMIM:270200 
SJOGREN-LARSSON SYNDROME; SLS
OMIM:270800 
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A
OMIM:271900 
CANAVAN DISEASE
OMIM:272800 
TAY-SACHS DISEASE; TSD
OMIM:273300 
TESTICULAR GERM CELL TUMOR; TGCT
OMIM:274000 
THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR
OMIM:276901 
USHER SYNDROME, TYPE IIA; USH2A
OMIM:277470 
PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A
OMIM:300029 
RETINITIS PIGMENTOSA 3; RP3
OMIM:300067 
LISSENCEPHALY, X-LINKED, 1; LISX1
OMIM:300088 
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9; DEE9
OMIM:300100 
ADRENOLEUKODYSTROPHY; ALD
OMIM:300376 
MUSCULAR DYSTROPHY, BECKER TYPE; BMD
OMIM:300387 
MENTAL RETARDATION, X-LINKED 63; MRX63
OMIM:300476 
CONE-ROD DYSTROPHY, X-LINKED, 3; CORDX3
OMIM:300486 
MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE
OMIM:300495 
AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2
OMIM:300523 
ALLAN-HERNDON-DUDLEY SYNDROME; AHDS
OMIM:300534 
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE; MRXSCJ
OMIM:300695 
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT; SPM
OMIM:300749 
MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH
OMIM:300804 
JOUBERT SYNDROME 10; JBTS10
OMIM:300881 
MOVED TO 615777
OMIM:300882 
CORNELIA DE LANGE SYNDROME 5; CDLS5
OMIM:300894 
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5
OMIM:300908 
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
OMIM:300957 
MENTAL RETARDATION, X-LINKED 12; MRX12
OMIM:300958 
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE; MRXSSB
OMIM:300966 
MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33
OMIM:300968 
MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED; MRXS99F
OMIM:300983 
MENTAL RETARDATION, X-LINKED 104; MRX104
OMIM:300986 
MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB
OMIM:301050 
ALPORT SYNDROME 1, X-LINKED; ATS1
OMIM:301310 
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA; ASAT
OMIM:304340 
PETTIGREW SYNDROME; PGS
OMIM:305100 
ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED; XHED
OMIM:308350 
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1; DEE1
OMIM:309500 
RENPENNING SYNDROME 1; RENS1
OMIM:309541 
METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE
OMIM:309580 
MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1
OMIM:310468 
NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE; XRN
OMIM:311070 
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX5
OMIM:313850 
THORACOABDOMINAL SYNDROME; THAS
OMIM:314580 
WIEACKER-WOLFF SYNDROME; WRWF
OMIM:600059 
RETINITIS PIGMENTOSA 13; RP13
OMIM:600105 
RETINITIS PIGMENTOSA 12; RP12
OMIM:600118 
WARBURG MICRO SYNDROME 1; WARBM1
OMIM:600132 
RETINITIS PIGMENTOSA 14; RP14
OMIM:600138 
RETINITIS PIGMENTOSA 11; RP11
OMIM:600143 
CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8
OMIM:600334 
TIBIAL MUSCULAR DYSTROPHY, TARDIVE; TMD
OMIM:600373 
CODAS SYNDROME
OMIM:600618 
ETS VARIANT GENE 6; ETV6
OMIM:600995 
NEPHROTIC SYNDROME, TYPE 2; NPHS2
OMIM:601088 
AYME-GRIPP SYNDROME; AYGRP
OMIM:601414 
RETINITIS PIGMENTOSA 18; RP18
OMIM:601419 
MYOPATHY, MYOFIBRILLAR, 1; MFM1
OMIM:601680 
ARTHROGRYPOSIS, DISTAL, TYPE 2B1; DA2B1
OMIM:601718 
RETINITIS PIGMENTOSA 19; RP19
OMIM:601780 
CEROID LIPOFUSCINOSIS, NEURONAL, 6; CLN6
OMIM:601815 
PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY; PHGDHD
OMIM:601954 
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 7; LGMDR7
OMIM:602482 
AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3
OMIM:602579 
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; CDG1B
OMIM:602772 
RETINITIS PIGMENTOSA 25; RP25
OMIM:603511 
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1; LGMDD1
OMIM:603896 
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM
OMIM:604004 
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1; MLC1
OMIM:604116 
CONE-ROD DYSTROPHY 3; CORD3
OMIM:604273 
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1
OMIM:604286 
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4; LGMDR4
OMIM:604317 
MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2
OMIM:604360 
SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE; SPG11
OMIM:604387 
NEPHRONOPHTHISIS 3; NPHP3
OMIM:604537 
LEBER CONGENITAL AMAUROSIS 5; LCA5
OMIM:604592 
T CELL IMMUNE REGULATOR 1; TCIRG1
OMIM:605130 
WIEDEMANN-STEINER SYNDROME; WDSTS
OMIM:605355 
NEMALINE MYOPATHY 5; NEM5
OMIM:605407 
SEGAWA SYNDROME, AUTOSOMAL RECESSIVE
OMIM:605637 
MYOPATHY, PROXIMAL, WITH OPHTHALMOPLEGIA; MYPOP
OMIM:605670 
LATE-ONSET RETINAL DEGENERATION; LORD
OMIM:605820 
NONAKA MYOPATHY; NM
OMIM:605899 
GLYCINE ENCEPHALOPATHY; GCE
OMIM:606068 
RETINITIS PIGMENTOSA 28; RP28
OMIM:606170 
GENITOPATELLAR SYNDROME; GTPTS
OMIM:606232 
PHELAN-MCDERMID SYNDROME; PHMDS
OMIM:606777 
GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1
OMIM:606854 
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL; BFPP
OMIM:606966 
NEPHRONOPHTHISIS 4; NPHP4
OMIM:606996 
SENIOR-LOKEN SYNDROME 4; SLSN4
OMIM:607015 
HURLER-SCHEIE SYNDROME
OMIM:607155 
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MDDGC5
OMIM:607196 
MICROCEPHALY, AMISH TYPE; MCPHA
OMIM:607225 
SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING; IAHSP
OMIM:607426 
COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1
OMIM:607432 
LISSENCEPHALY 1; LIS1
OMIM:607483 
THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE); THMD2
OMIM:607595 
MOVED TO 175780
OMIM:607596 
PONTOCEREBELLAR HYPOPLASIA, TYPE 1A; PCH1A
OMIM:607855 
MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A
OMIM:608027 
PONTOCEREBELLAR HYPOPLASIA, TYPE 3; PCH3
OMIM:608091 
JOUBERT SYNDROME 2; JBTS2
OMIM:608099 
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3; LGMDR3
OMIM:608133 
RETINITIS PIGMENTOSA 7; RP7
OMIM:608358 
MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT; MSMA
OMIM:608380 
RETINITIS PIGMENTOSA 26; RP26
OMIM:608393 
MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE; MCPH6
OMIM:608415 
PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION; PERRS
OMIM:608423 
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2; LGMDD2
OMIM:608540 
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K
OMIM:608629 
JOUBERT SYNDROME 3; JBTS3
OMIM:608643 
AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
OMIM:608716 
MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5
OMIM:608804 
LEUKODYSTROPHY, HYPOMYELINATING, 2; HLD2
OMIM:608807 
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10; LGMDR10
OMIM:609033 
POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA; AXPC1
OMIM:609056 
SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME; SPDRS
OMIM:609195 
SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE; SPG26
OMIM:609200 
MYOPATHY, MYOFIBRILLAR, 3; MFM3
OMIM:609260 
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A; CMT2A2A
OMIM:609270 
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7; SCAR7
OMIM:609304 
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 3; DEE3
OMIM:609524 
MYOPATHY, MYOFIBRILLAR, 5; MFM5
OMIM:609560 
MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE); MTDPS2
OMIM:609923 
RETINITIS PIGMENTOSA 31; RP31
OMIM:610019 
CATARACT 18; CTRCT18
OMIM:610031 
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7; CDCBM7
OMIM:610127 
CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10
OMIM:610181 
AICARDI-GOUTIERES SYNDROME 2; AGS2
OMIM:610188 
JOUBERT SYNDROME 5; JBTS5
OMIM:610217 
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B; NBIA2B
OMIM:610329 
AICARDI-GOUTIERES SYNDROME 3; AGS3
OMIM:610333 
AICARDI-GOUTIERES SYNDROME 4; AGS4
OMIM:610359 
RETINITIS PIGMENTOSA 33; RP33
OMIM:610443 
KOOLEN-DE VRIES SYNDROME; KDVS
OMIM:610444 
NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3; CSNBAD3
OMIM:610489 
PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1
OMIM:610532 
LEUKODYSTROPHY, HYPOMYELINATING, 5; HLD5
OMIM:610688 
JOUBERT SYNDROME 6; JBTS6
OMIM:610725 
NEPHROTIC SYNDROME, TYPE 3; NPHS3
OMIM:610951 
CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7
OMIM:611091 
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5
OMIM:611302 
SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE; SPAX2
OMIM:611307 
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12; LGMDR12
OMIM:611560 
JOUBERT SYNDROME 7; JBTS7
OMIM:611603 
LISSENCEPHALY 3; LIS3
OMIM:611705 
SALIH MYOPATHY; SALMY
OMIM:611721 
COMBINED SAPOSIN DEFICIENCY
OMIM:611726 
EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS; EPM3
OMIM:611755 
LEBER CONGENITAL AMAUROSIS 10; LCA10
OMIM:612015 
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In; CDG1N
OMIM:612095 
RETINITIS PIGMENTOSA 41; RP41
OMIM:612126 
GLUT1 DEFICIENCY SYNDROME 2; GLUT1DS2
OMIM:612285 
JOUBERT SYNDROME 9; JBTS9
OMIM:612337 
MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22
OMIM:612370 
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA; HH5
OMIM:612438 
LEUKODYSTROPHY, HYPOMYELINATING, 6; HLD6
OMIM:612528 
DIAMOND-BLACKFAN ANEMIA 5; DBA5
OMIM:612621 
MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5
OMIM:612712 
LEBER CONGENITAL AMAUROSIS 13; LCA13
OMIM:612716 
DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY
OMIM:612780 
SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE; SESAMES
OMIM:612936 
SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50
OMIM:612943 
RETINITIS PIGMENTOSA 42; RP42
OMIM:612951 
LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY
OMIM:613065 
LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL
OMIM:613091 
SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3
OMIM:613155 
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1; MDDGB1
OMIM:613156 
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2; MDDGB2
OMIM:613158 
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2; MDDGC2
OMIM:613192 
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13
OMIM:613205 
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED
OMIM:613216 
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C
OMIM:613217 
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL; DIAR5
OMIM:613402 
MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ
OMIM:613428 
RETINITIS PIGMENTOSA 54; RP54
OMIM:613454 
RETT SYNDROME, CONGENITAL VARIANT
OMIM:613550 
NEPHRONOPHTHISIS 11; NPHP11
OMIM:613561 
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA2
OMIM:613587 
OCCULT MACULAR DYSTROPHY; OCMD
OMIM:613612 
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I
OMIM:613660 
CONE-ROD DYSTROPHY 15; CORD15
OMIM:613668 
MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY
OMIM:613680 
BEAULIEU-BOYCOTT-INNES SYNDROME; BBIS
OMIM:613684 
RUBINSTEIN-TAYBI SYNDROME 2; RSTS2
OMIM:613690 
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7; CMH7
OMIM:613706 
NOONAN SYNDROME 7; NS7
OMIM:613722 
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 12; DEE12
OMIM:613731 
RETINITIS PIGMENTOSA 4; RP4
OMIM:613744 
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE; SPG51
OMIM:613750 
RETINITIS PIGMENTOSA 27; RP27
OMIM:613756 
RETINITIS PIGMENTOSA 49; RP49
OMIM:613767 
RETINITIS PIGMENTOSA 45; RP45
OMIM:613794 
RETINITIS PIGMENTOSA 20; RP20
OMIM:613809 
RETINITIS PIGMENTOSA 39; RP39
OMIM:613810 
RETINITIS PIGMENTOSA 43; RP43
OMIM:613811 
PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D
OMIM:613820 
NEPHRONOPHTHISIS 12; NPHP12
OMIM:613835 
LEBER CONGENITAL AMAUROSIS 8; LCA8
OMIM:613861 
RETINITIS PIGMENTOSA 59; RP59
OMIM:613862 
RETINITIS PIGMENTOSA 38; RP38
OMIM:614034 
HEME OXYGENASE 1 DEFICIENCY; HMOX1D
OMIM:614065 
MYOPATHY, DISTAL, 4; MPD4
OMIM:614173 
JOUBERT SYNDROME 13; JBTS13
OMIM:614180 
RETINITIS PIGMENTOSA 61; RP61
OMIM:614181 
RETINITIS PIGMENTOSA 62; RP62
OMIM:614199 
NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES; NPHS5
OMIM:614202 
RAFIQ SYNDROME; RAFQS
OMIM:614225 
WARBURG MICRO SYNDROME 2; WARBM2
OMIM:614254 
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD
OMIM:614255 
NESCAV SYNDROME; NESCAVS
OMIM:614299 
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA; MMDS2
OMIM:614381 
LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD8
OMIM:614424 
JOUBERT SYNDROME 14; JBTS14
OMIM:614500 
CONE-ROD DYSTROPHY 16; CORD16
OMIM:614557 
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2; EDSKSCL2
OMIM:614607 
COFFIN-SIRIS SYNDROME 2; CSS2
OMIM:614615 
JOUBERT SYNDROME 17; JBTS17
OMIM:614669 
AURICULOCONDYLAR SYNDROME 2; ARCND2
OMIM:614678 
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B; PCH1B
OMIM:614744 
FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3
OMIM:614753 
SOTOS SYNDROME 2; SOTOS2
OMIM:614831 
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13
OMIM:614833 
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES; MSSP
OMIM:614876 
PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER); PBD8A
OMIM:614877 
PEROXISOME BIOGENESIS DISORDER 8B; PBD8B
OMIM:614932 
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13; COXPD13
OMIM:614945 
DEAFNESS, AUTOSOMAL RECESSIVE 18B; DFNB18B
OMIM:615030 
SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE; SPG56
OMIM:615031 
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE; SPG49
OMIM:615065 
ARTHROGRYPOSIS, DISTAL, TYPE 5D; DA5D
OMIM:615071 
ALAZAMI SYNDROME; ALAZS
OMIM:615095 
MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE; MCPH10
OMIM:615181 
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11
OMIM:615190 
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5; DKCB5
OMIM:615191 
LISSENCEPHALY 5; LIS5
OMIM:615268 
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4; CAMRQ4
OMIM:615286 
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36; MRT36
OMIM:615352 
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14; MDDGC14
OMIM:615411 
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3; CDCBM3
OMIM:615412 
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4; CDCBM4
OMIM:615419 
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1
OMIM:615471 
MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE); MTDPS13
OMIM:615476 
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18; DEE18
OMIM:615485 
BAINBRIDGE-ROPERS SYNDROME; BRPS
OMIM:615502 
MENTAL RETARDATION, AUTOSOMAL DOMINANT 21; MRD21
OMIM:615546 
VAN MALDERGEM SYNDROME 2; VMLDS2
OMIM:615574 
ASPARAGINE SYNTHETASE DEFICIENCY; ASNSD
OMIM:615681 
SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE; SPG62
OMIM:615715 
BONE MARROW FAILURE SYNDROME 2; BMFS2
OMIM:615716 
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4; HPMRS4
OMIM:615760 
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY; MSCCA
OMIM:615763 
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5; CDCBM5
OMIM:615809 
PONTOCEREBELLAR HYPOPLASIA, TYPE 9; PCH9
OMIM:615829 
XIA-GIBBS SYNDROME; XIGIS
OMIM:615834 
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26; MRD26
OMIM:615846 
AICARDI-GOUTIERES SYNDROME 7; AGS7
OMIM:615866 
COFFIN-SIRIS SYNDROME 9; CSS9
OMIM:615909 
DIAMOND-BLACKFAN ANEMIA 13; DBA13
OMIM:615948 
OROFACIODIGITAL SYNDROME XIV; OFD14
OMIM:615959 
MYOPATHY, CENTRONUCLEAR, 5; CNM5
OMIM:615960 
PORETTI-BOLTSHAUSER SYNDROME; PTBHS
OMIM:615973 
CONE-ROD DYSTROPHY 20; CORD20
OMIM:615981 
BARDET-BIEDL SYNDROME 2; BBS2
OMIM:615982 
BARDET-BIEDL SYNDROME 4; BBS4
OMIM:615983 
BARDET-BIEDL SYNDROME 5; BBS5
OMIM:615993 
BARDET-BIEDL SYNDROME 16; BBS16
OMIM:616051 
MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13
OMIM:616056 
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 26; DEE26
OMIM:616081 
PONTOCEREBELLAR HYPOPLASIA, TYPE 1C; PCH1C
OMIM:616094 
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12; MDDGC12
OMIM:616127 
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17; SCAR17
OMIM:616140 
LEUKODYSTROPHY, HYPOMYELINATING, 9; HLD9
OMIM:616155 
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S; CMT2S
OMIM:616171 
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2
OMIM:616199 
POLYGLUCOSAN BODY MYOPATHY 2; PGBM2
OMIM:616211 
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28; DEE28
OMIM:616263 
NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET; IMNEPD
OMIM:616266 
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; CLIFAHDD
OMIM:616271 
3-METHYLGLUTACONIC ACIDURIA, TYPE VII; MGCA7
OMIM:616277 
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY; ECHS1D
OMIM:616281 
NEURODEVELOPMENTAL DISORDER WITH SPASTIC PARAPLEGIA AND MICROCEPHALY; NEDSPM
OMIM:616321 
MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL; CMS3A
OMIM:616354 
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20; SCAR20
OMIM:616394 
RETINITIS PIGMENTOSA 71; RP71
OMIM:616420 
LEUKODYSTROPHY, HYPOMYELINATING, 10; HLD10
OMIM:616421 
MYOCLONIC-ATONIC EPILEPSY; MAE
OMIM:616471 
BETHLEM MYOPATHY 2; BTHLM2
OMIM:616490 
JOUBERT SYNDROME 23; JBTS23
OMIM:616531 
POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS; PMGYCHA
OMIM:616544 
RETINITIS PIGMENTOSA 73; RP73
OMIM:616562 
RETINITIS PIGMENTOSA 74; RP74
OMIM:616564 
NOONAN SYNDROME 10; NS10
OMIM:616632 
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME; SCBMS
OMIM:616647 
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35; DEE35
OMIM:616649 
SPHEROCYTOSIS, TYPE 2; SPH2
OMIM:616651 
ROIFMAN SYNDROME; RFMN
OMIM:616654 
JOUBERT SYNDROME 24; JBTS24
OMIM:616657 
SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY; SPATCCM
OMIM:616668 
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X; CMT2X
OMIM:616683 
LEUKODYSTROPHY, HYPOMYELINATING, 12; HLD12
OMIM:616721 
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn; CDG2N
OMIM:616732 
OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10
OMIM:616738 
RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2
OMIM:616740 
IMMUNODEFICIENCY 46; IMD46
OMIM:616789 
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS; MRFACD
OMIM:616801 
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2
OMIM:616875 
CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION; CAVIPMR
OMIM:616892 
NEPHROTIC SYNDROME, TYPE 12; NPHS12
OMIM:616900 
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3; IHPRF3
OMIM:616973 
MENTAL RETARDATION, AUTOSOMAL DOMINANT 42; MRD42
OMIM:617011 
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR
OMIM:617013 
HYPERMANGANESEMIA WITH DYSTONIA 2; HMNDYT2
OMIM:617047 
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26; CMH26
OMIM:617052 
BONE MARROW FAILURE SYNDROME 3; BMFS3
OMIM:617053 
MIRAGE SYNDROME; MIRAGE
OMIM:617093 
GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY; GRIDHH
OMIM:617106 
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42; DEE42
OMIM:617120 
JOUBERT SYNDROME 27; JBTS27
OMIM:617121 
JOUBERT SYNDROME 28; JBTS28
OMIM:617123 
RETINITIS PIGMENTOSA 76; RP76
OMIM:617137 
FRONTOMETAPHYSEAL DYSPLASIA 2; FMD2
OMIM:617146 
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT
OMIM:617183 
HAREL-YOON SYNDROME; HAYOS
OMIM:617193 
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT
OMIM:617222 
SUDDEN CARDIAC FAILURE, INFANTILE; SCFI
OMIM:617276 
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48; DEE48
OMIM:617330 
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS
OMIM:617350 
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 52; DEE52
OMIM:617397 
PSEUDO-TORCH SYNDROME 2; PTORCH2
OMIM:617433 
RETINITIS PIGMENTOSA 78; RP78
OMIM:617443 
BLEEDING DISORDER, PLATELET-TYPE, 21; BDPLT21
OMIM:617460 
RETINITIS PIGMENTOSA 79; RP79
OMIM:617481 
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES; NMIHBA
OMIM:617537 
RAHMAN SYNDROME; RMNS
OMIM:617547 
RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA; RDMS
OMIM:617622 
JOUBERT SYNDROME 30; JBTS30
OMIM:617675 
MYOPATHY, MITOCHONDRIAL, AND ATAXIA; MMYAT
OMIM:617681 
BLEPHAROCHEILODONTIC SYNDROME 2; BCDS2
OMIM:617694 
AL KAISSI SYNDROME; ALKAS
OMIM:617781 
RETINITIS PIGMENTOSA 80; RP80
OMIM:617805 
RENAL HYPODYSPLASIA/APLASIA 3; RHDA3
OMIM:617807 
NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW
OMIM:617829 
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2; IECEE2
OMIM:617873 
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35; COXPD35
OMIM:617948 
ELLIPTOCYTOSIS 3; EL3
OMIM:617954 
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6; MMDS6
OMIM:618056 
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES; NEDCAS
OMIM:618088 
NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES; NEDAMSS
OMIM:618129 
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4; LGMDD4
OMIM:618138 
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23
OMIM:618174 
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9; CDCBM9
OMIM:618225 
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4; MC1DN4
OMIM:618273 
MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS; MCCCHCM
OMIM:618316 
INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES; IDDCDF
OMIM:618325 
LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION; LIS9
OMIM:618404 
LEUKODYSTROPHY, HYPOMYELINATING, 18; HLD18
OMIM:618512 
O\\'DONNELL-LURIA-RODAN SYNDROME; ODLURO
OMIM:614921 
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It; CDG1T
"},"url":"https://omim.org/","version":"0.2.0","name":"OMIM","title":"Online Mendelian Inheritance in Man","status":"draft","experimental":false,"date":"2023-09-15T21:08:17+00:00","publisher":"NCPI FHIR Working Group","contact":[{"name":"NCPI FHIR Working Group","telecom":[{"system":"url","value":"https://github.com/nih-ncpi"}]},{"name":"Meen Chul Kim","telecom":[{"system":"email","value":"meenchul@d3b.center","use":"work"}]}],"description":"An online database that describes the function and phenotypes associated with human genes","caseSensitive":true,"content":"fragment","count":497,"concept":[{"code":"OMIM:613801","display":"Retinitis pigmentosa-40"},{"code":"OMIM:213300","display":"Joubert syndrome 1"},{"code":"OMIM:615780","display":"Retinitis pigmentosa 69"},{"code":"OMIM:613826","display":"Leber congenital amaurosis 6"},{"code":"OMIM:310200","display":"Duchenne muscular dystrophy"},{"code":"OMIM:617194","display":"Lethal congenital contracture syndrome 11"},{"code":"OMIM:105400","display":"AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1"},{"code":"OMIM:108120","display":"ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A"},{"code":"OMIM:114300","display":"ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3"},{"code":"OMIM:115195","display":"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2"},{"code":"OMIM:115196","display":"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3; CMH3"},{"code":"OMIM:115197","display":"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4"},{"code":"OMIM:115200","display":"CARDIOMYOPATHY, DILATED, 1A; CMD1A"},{"code":"OMIM:117000","display":"CENTRAL CORE DISEASE OF MUSCLE; CCD"},{"code":"OMIM:117360","display":"SPINOCEREBELLAR ATAXIA 29; SCA29"},{"code":"OMIM:119530","display":"OROFACIAL CLEFT 1; OFC1"},{"code":"OMIM:122470","display":"CORNELIA DE LANGE SYNDROME 1; CDLS1"},{"code":"OMIM:130600","display":"ELLIPTOCYTOSIS 2; EL2"},{"code":"OMIM:135900","display":"COFFIN-SIRIS SYNDROME 1; CSS1"},{"code":"OMIM:136140","display":"FLOATING-HARBOR SYNDROME; FLHS"},{"code":"OMIM:137920","display":"RENAL CYSTS AND DIABETES SYNDROME; RCAD"},{"code":"OMIM:139090","display":"GRAY PLATELET SYNDROME; GPS"},{"code":"OMIM:139210","display":"MYHRE SYNDROME; MYHRS"},{"code":"OMIM:143095","display":"SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS; SEDCJD"},{"code":"OMIM:143465","display":"ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD"},{"code":"OMIM:147891","display":"ISCHIOCOXOPODOPATELLAR SYNDROME WITH OR WITHOUT PULMONARY ARTERIAL HYPERTENSION; ICPPS"},{"code":"OMIM:147920","display":"KABUKI SYNDROME 1; KABUK1"},{"code":"OMIM:148050","display":"KBG SYNDROME; KBGS"},{"code":"OMIM:149400","display":"HYPEREKPLEXIA 1; HKPX1"},{"code":"OMIM:152950","display":"MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR"},{"code":"OMIM:153670","display":"BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT; BSSA2"},{"code":"OMIM:154400","display":"ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1"},{"code":"OMIM:154700","display":"MARFAN SYNDROME; MFS"},{"code":"OMIM:155310","display":"VISCERAL MYOPATHY; VSCM"},{"code":"OMIM:158590","display":"NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA; HMN2A"},{"code":"OMIM:158810","display":"BETHLEM MYOPATHY 1; BTHLM1"},{"code":"OMIM:159550","display":"ATAXIA-PANCYTOPENIA SYNDROME; ATXPC"},{"code":"OMIM:160150","display":"MYOPATHY, CENTRONUCLEAR, 1; CNM1"},{"code":"OMIM:160500","display":"MYOPATHY, DISTAL, 1; MPD1"},{"code":"OMIM:160800","display":"MYOTONIA CONGENITA, AUTOSOMAL DOMINANT"},{"code":"OMIM:160900","display":"MYOTONIC DYSTROPHY 1; DM1"},{"code":"OMIM:161800","display":"NEMALINE MYOPATHY 3; NEM3"},{"code":"OMIM:163950","display":"NOONAN SYNDROME 1; NS1"},{"code":"OMIM:178110","display":"CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A; CPSFS1A"},{"code":"OMIM:178500","display":"PULMONARY FIBROSIS, IDIOPATHIC; IPF"},{"code":"OMIM:180100","display":"RETINITIS PIGMENTOSA 1; RP1"},{"code":"OMIM:180849","display":"RUBINSTEIN-TAYBI SYNDROME 1; RSTS1"},{"code":"OMIM:181430","display":"SCAPULOPERONEAL MYOPATHY, MYH7-RELATED; SPMM"},{"code":"OMIM:182601","display":"SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4"},{"code":"OMIM:188000","display":"THROMBOCYTOPENIA 2; THC2"},{"code":"OMIM:191480","display":"UNCOMBABLE HAIR SYNDROME 1; UHS1"},{"code":"OMIM:203800","display":"ALSTROM SYNDROME; ALMS"},{"code":"OMIM:204200","display":"CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3"},{"code":"OMIM:204500","display":"CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2"},{"code":"OMIM:205100","display":"AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2"},{"code":"OMIM:206900","display":"MICROPHTHALMIA, SYNDROMIC 3; MCOPS3"},{"code":"OMIM:208900","display":"ATAXIA-TELANGIECTASIA; AT"},{"code":"OMIM:209850","display":"AUTISM"},{"code":"OMIM:209900","display":"BARDET-BIEDL SYNDROME 1; BBS1"},{"code":"OMIM:210000","display":"BEHR SYNDROME; BEHRS"},{"code":"OMIM:210720","display":"MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; MOPD2"},{"code":"OMIM:210900","display":"BLOOM SYNDROME; BLM"},{"code":"OMIM:212065","display":"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A"},{"code":"OMIM:212066","display":"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa; CDG2A"},{"code":"OMIM:214500","display":"CHEDIAK-HIGASHI SYNDROME; CHS"},{"code":"OMIM:214800","display":"CHARGE SYNDROME"},{"code":"OMIM:215500","display":"CHOROIDAL DYSTROPHY, CENTRAL AREOLAR, 1; CACD1"},{"code":"OMIM:216400","display":"COCKAYNE SYNDROME A; CSA"},{"code":"OMIM:216550","display":"COHEN SYNDROME; COH1"},{"code":"OMIM:217080","display":"JALILI SYNDROME"},{"code":"OMIM:217980","display":"CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND ROBIN SEQUENCE"},{"code":"OMIM:218340","display":"TEMTAMY SYNDROME; TEMTYS"},{"code":"OMIM:219200","display":"CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A"},{"code":"OMIM:224050","display":"CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1; CAMRQ1"},{"code":"OMIM:224690","display":"MEIER-GORLIN SYNDROME 1; MGORS1"},{"code":"OMIM:225753","display":"PONTOCEREBELLAR HYPOPLASIA, TYPE 4; PCH4"},{"code":"OMIM:225790","display":"PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME; PVHH"},{"code":"OMIM:227650","display":"FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA"},{"code":"OMIM:229600","display":"FRUCTOSE INTOLERANCE, HEREDITARY; HFI"},{"code":"OMIM:230000","display":"FUCOSIDOSIS"},{"code":"OMIM:230500","display":"GM1-GANGLIOSIDOSIS, TYPE I"},{"code":"OMIM:232300","display":"GLYCOGEN STORAGE DISEASE II; GSD2"},{"code":"OMIM:232600","display":"GLYCOGEN STORAGE DISEASE V; GSD5"},{"code":"OMIM:234200","display":"NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1"},{"code":"OMIM:234500","display":"HARTNUP DISORDER; HND"},{"code":"OMIM:236000","display":"LYMPHOMA, HODGKIN, CLASSIC; CHL"},{"code":"OMIM:236600","display":"HYDROCEPHALUS, CONGENITAL, 1; HYC1"},{"code":"OMIM:236792","display":"L-2-HYDROXYGLUTARIC ACIDURIA; L2HGA"},{"code":"OMIM:243310","display":"BARAITSER-WINTER SYNDROME 1; BRWS1"},{"code":"OMIM:244450","display":"KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS"},{"code":"OMIM:245200","display":"KRABBE DISEASE"},{"code":"OMIM:245359","display":"missing"},{"code":"OMIM:248200","display":"STARGARDT DISEASE 1; STGD1"},{"code":"OMIM:248700","display":"MARDEN-WALKER SYNDROME; MWKS"},{"code":"OMIM:249000","display":"MECKEL SYNDROME, TYPE 1; MKS1"},{"code":"OMIM:249900","display":"METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY"},{"code":"OMIM:250100","display":"METACHROMATIC LEUKODYSTROPHY; MLD"},{"code":"OMIM:250620","display":"3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY; HIBCHD"},{"code":"OMIM:251200","display":"MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE; MCPH1"},{"code":"OMIM:251260","display":"NIJMEGEN BREAKAGE SYNDROME; NBS"},{"code":"OMIM:251280","display":"DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1; DMJDS1"},{"code":"OMIM:251290","display":"PSEUDO-TORCH SYNDROME 1; PTORCH1"},{"code":"OMIM:251300","display":"GALLOWAY-MOWAT SYNDROME 1; GAMOS1"},{"code":"OMIM:252010","display":"MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1; MC1DN1"},{"code":"OMIM:252160","display":"MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B; MOCODB"},{"code":"OMIM:252920","display":"MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B"},{"code":"OMIM:253250","display":"MULIBREY NANISM"},{"code":"OMIM:253600","display":"MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1; LGMDR1"},{"code":"OMIM:253601","display":"MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2; LGMDR2"},{"code":"OMIM:253700","display":"MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5; LGMDR5"},{"code":"OMIM:254090","display":"ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1; UCMD1"},{"code":"OMIM:254110","display":"MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8; LGMDR8"},{"code":"OMIM:254300","display":"MYASTHENIC SYNDROME, CONGENITAL, 10; CMS10"},{"code":"OMIM:254780","display":"MYOCLONIC EPILEPSY OF LAFORA"},{"code":"OMIM:254940","display":"CAREY-FINEMAN-ZITER SYNDROME; CFZS"},{"code":"OMIM:255310","display":"MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD"},{"code":"OMIM:255320","display":"MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA"},{"code":"OMIM:255800","display":"SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1"},{"code":"OMIM:256000","display":"LEIGH SYNDROME; LS"},{"code":"OMIM:256300","display":"NEPHROTIC SYNDROME, TYPE 1; NPHS1"},{"code":"OMIM:256600","display":"NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; 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This case-sensitive code system http://purl.obolibrary.org/obo/ncit.owl provides a fragment that includes following codes:
Code
Display
C3270 
Neuroblastoma
C5437 
Extracranial Neuroblastoma
C84505 
Tetralogy of Fallot
"},"url":"http://purl.obolibrary.org/obo/ncit.owl","version":"0.2.0","name":"NCIt","title":"NCI Thesaurus","status":"draft","experimental":false,"date":"2023-09-15T21:08:17+00:00","publisher":"NCPI FHIR Working Group","contact":[{"name":"NCPI FHIR Working Group","telecom":[{"system":"url","value":"https://github.com/nih-ncpi"}]},{"name":"Meen Chul Kim","telecom":[{"system":"email","value":"meenchul@d3b.center","use":"work"}]}],"description":"NCI Thesaurus (NCIt) provides reference terminology for many NCI and other systems. It covers vocabulary for clinical care, translational and basic research, and public information and administrative activities.","caseSensitive":true,"content":"fragment","count":3,"concept":[{"code":"C3270","display":"Neuroblastoma"},{"code":"C5437","display":"Extracranial Neuroblastoma"},{"code":"C84505","display":"Tetralogy of Fallot"}]}},{"name":"cache-id","valueId":"1c60316b-3cd4-49c3-ae27-260ce5c62c93"},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"disease-codes","text":{"status":"generated","div":"
This value set includes codes based on the following rules:
Include all codes defined in https://omim.org/
Include all codes defined in http://purl.obolibrary.org/obo/mondo.owl
Include all codes defined in http://purl.obolibrary.org/obo/ncit.owl
"},"url":"https://nih-ncpi.github.io/ncpi-fhir-ig/ValueSet/disease-codes","version":"0.2.0","name":"DiseaseCodes","title":"Disease Codes","status":"draft","experimental":false,"date":"2023-09-15T21:08:17+00:00","publisher":"NCPI FHIR Working Group","contact":[{"name":"NCPI FHIR Working Group","telecom":[{"system":"url","value":"https://github.com/nih-ncpi"}]},{"name":"Meen Chul Kim","telecom":[{"system":"email","value":"meenchul@d3b.center","use":"work"}]}],"description":"This value set includes all codes from this FHIR server's representation of OMIM, Mondo and NICt CodeSystems.","compose":{"include":[{"system":"https://omim.org/"},{"system":"http://purl.obolibrary.org/obo/mondo.owl"},{"system":"http://purl.obolibrary.org/obo/ncit.owl"}]}}},{"name":"_limit","valueString":"1000"},{"name":"_incomplete","valueString":"true"}]}


Response: 

422
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date:Fri, 15 Sep 2023 21:10:32 GMT
server:nginx
x-request-id:32-575535

{"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "
Unable to provide support for code system http://purl.obolibrary.org/obo/mondo.owl
"},"issue" : [{"severity" : "error","code" : "not-supported","details" : {"text" : "Unable to provide support for code system http://purl.obolibrary.org/obo/mondo.owl"}}]}

--- 49 -----------------
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{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"includeDefinition","valueBoolean":false},{"name":"excludeNested","valueBoolean":false},{"name":"valueSet","resource":{"resourceType":"ValueSet","status":"active","compose":{"inactive":true,"include":[{"system":"https://uts.nlm.nih.gov/uts/umls","concept":[{"code":"C2348584","display":"Subject Unique Identifier"},{"code":"C0079399","display":"Gender"},{"code":"C168843","display":"Age in Days at Enrollment"},{"code":"C1305855","display":"Body mass index"},{"code":"C0872128","display":"case control"}]}]}}},{"name":"_limit","valueString":"1000"},{"name":"_incomplete","valueString":"true"}]}


Response: 

422
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content-length:373
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{"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "
Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls
"},"issue" : [{"severity" : "error","code" : "not-supported","details" : {"text" : "Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls"}}]}

--- 50 -----------------
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{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"excludeNested","valueBoolean":false},{"name":"incomplete-ok","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"datatable-mappings-valueset-1","text":{"status":"generated","div":"
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Display
C2348584
Subject Unique Identifier
C0079399
Gender
C168843
Age in Days at Enrollment
C1305855
Body mass index
C0872128
case control
Include these codes as defined in http://loinc.org
Code
Display
LP35925-4
Body mass index (BMI)
Include these codes as defined in http://purl.obolibrary.org/obo/hp.owl
Code
Display
HP:0010772
Anomalous pulmonary venous return
Include these codes as defined in http://purl.obolibrary.org/obo/mondo.owl
Code
Display
0017705
congenital pulmonary venous return anomaly
0007130
congenital total pulmonary venous return anomaly
"},"url":"https://nih-ncpi.github.io/ncpi-fhir-ig/ValueSet/datatable-mappings-valueset-1","version":"0.2.0","name":"ExampleStudyTableMappingsVS1","title":"Harmonized ValueSet for data table","status":"active","date":"2023-09-15T21:08:17+00:00","publisher":"NCPI FHIR Working Group","contact":[{"name":"NCPI FHIR Working Group","telecom":[{"system":"url","value":"https://github.com/nih-ncpi"}]},{"name":"Meen Chul Kim","telecom":[{"system":"email","value":"meenchul@d3b.center","use":"work"}]}],"description":"Public codes mapped from example dataset\n\nThe codes used below were chosen purely for example's sake and are in no way an endorsement or suggestion for terms that should be used in a real data-dictionary.","compose":{"include":[{"system":"https://uts.nlm.nih.gov/uts/umls","concept":[{"code":"C2348584","display":"Subject Unique Identifier"},{"code":"C0079399","display":"Gender"},{"code":"C168843","display":"Age in Days at Enrollment"},{"code":"C1305855","display":"Body mass index"},{"code":"C0872128","display":"case control"}]},{"system":"http://loinc.org","concept":[{"code":"LP35925-4","display":"Body mass index (BMI)"}]},{"system":"http://purl.obolibrary.org/obo/hp.owl","concept":[{"code":"HP:0010772","display":"Anomalous pulmonary venous return"}]},{"system":"http://purl.obolibrary.org/obo/mondo.owl","concept":[{"code":"0017705","display":"congenital pulmonary venous return anomaly"},{"code":"0007130","display":"congenital total pulmonary venous return anomaly"}]}]}}},{"name":"_limit","valueString":"1000"},{"name":"_incomplete","valueString":"true"}]}


Response: 

422
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content-length:373
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date:Fri, 15 Sep 2023 21:10:50 GMT
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{"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "
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"},"issue" : [{"severity" : "error","code" : "not-supported","details" : {"text" : "Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls"}}]}

--- 51 -----------------
Request: 

POST http://tx.fhir.org/r4/ValueSet/$expand?_limit=1000&_incomplete=true HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"includeDefinition","valueBoolean":false},{"name":"excludeNested","valueBoolean":false},{"name":"valueSet","resource":{"resourceType":"ValueSet","status":"active","compose":{"inactive":true,"include":[{"system":"https://uts.nlm.nih.gov/uts/umls","concept":[{"code":"C99269","display":"Case"},{"code":"C99270","display":"Control"}]}]}}},{"name":"_limit","valueString":"1000"},{"name":"_incomplete","valueString":"true"}]}


Response: 

422
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
connection:keep-alive
content-length:373
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:53 GMT
server:nginx
x-request-id:32-575564

{"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "
Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls
"},"issue" : [{"severity" : "error","code" : "not-supported","details" : {"text" : "Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls"}}]}

--- 52 -----------------
Request: 

POST http://tx.fhir.org/r4/ValueSet/$expand?_limit=1000&_incomplete=true HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"excludeNested","valueBoolean":false},{"name":"incomplete-ok","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"example-study-data-dictionary-case-control-vs-1","text":{"status":"generated","div":"
Include these codes as defined in https://uts.nlm.nih.gov/uts/umls
Code
Display
C99269
Case
C99270
Control
"},"url":"https://nih-ncpi.github.io/ncpi-fhir-ig/ValueSet/example-study-data-dictionary-case-control-vs-1","version":"0.2.0","name":"ExampleStudyDataDictionaryCaseControlVS1","title":"Case/Control Vars for 'status' categoricals","status":"draft","date":"2023-09-15T21:08:17+00:00","publisher":"NCPI FHIR Working Group","contact":[{"name":"NCPI FHIR Working Group","telecom":[{"system":"url","value":"https://github.com/nih-ncpi"}]},{"name":"Meen Chul Kim","telecom":[{"system":"email","value":"meenchul@d3b.center","use":"work"}]}],"description":"Example ValueSet listing all possible 'values' from the Case/Control variable.","compose":{"include":[{"system":"https://uts.nlm.nih.gov/uts/umls","concept":[{"code":"C99269","display":"Case"},{"code":"C99270","display":"Control"}]}]}}},{"name":"_limit","valueString":"1000"},{"name":"_incomplete","valueString":"true"}]}


Response: 

422
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
connection:keep-alive
content-length:373
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:53 GMT
server:nginx
x-request-id:32-575567

{"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "
Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls
"},"issue" : [{"severity" : "error","code" : "not-supported","details" : {"text" : "Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls"}}]}

--- 53 -----------------
Request: 

POST http://tx.fhir.org/r4/ValueSet/$expand?_limit=1000&_incomplete=true HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"excludeNested","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"example-study-data-dictionary-case-control-vs-1","text":{"status":"generated","div":"
Include these codes as defined in https://uts.nlm.nih.gov/uts/umls
Code
Display
C99269
Case
C99270
Control
"},"url":"https://nih-ncpi.github.io/ncpi-fhir-ig/ValueSet/example-study-data-dictionary-case-control-vs-1","version":"0.2.0","name":"ExampleStudyDataDictionaryCaseControlVS1","title":"Case/Control Vars for 'status' categoricals","status":"draft","date":"2023-09-15T21:08:17+00:00","publisher":"NCPI FHIR Working Group","contact":[{"name":"NCPI FHIR Working Group","telecom":[{"system":"url","value":"https://github.com/nih-ncpi"}]},{"name":"Meen Chul Kim","telecom":[{"system":"email","value":"meenchul@d3b.center","use":"work"}]}],"description":"Example ValueSet listing all possible 'values' from the Case/Control variable.","compose":{"include":[{"system":"https://uts.nlm.nih.gov/uts/umls","concept":[{"code":"C99269","display":"Case"},{"code":"C99270","display":"Control"}]}]}}},{"name":"_limit","valueString":"1000"},{"name":"_incomplete","valueString":"true"}]}


Response: 

422
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
connection:keep-alive
content-length:373
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:10:59 GMT
server:nginx
x-request-id:32-575578

{"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "
Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls
"},"issue" : [{"severity" : "error","code" : "not-supported","details" : {"text" : "Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls"}}]}

--- 54 -----------------
Request: 

POST http://tx.fhir.org/r4/ValueSet/$expand?_limit=1000&_incomplete=true HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"excludeNested","valueBoolean":false},{"name":"incomplete-ok","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"phenotype-codes","text":{"status":"generated","div":"
Include all codes defined in http://purl.obolibrary.org/obo/hp.owl
"},"url":"https://nih-ncpi.github.io/ncpi-fhir-ig/ValueSet/phenotype-codes","version":"0.2.0","name":"PhenotypeCodes","title":"Phenotype Codes","status":"draft","experimental":false,"date":"2023-09-15T21:08:17+00:00","publisher":"NCPI FHIR Working Group","contact":[{"name":"NCPI FHIR Working Group","telecom":[{"system":"url","value":"https://github.com/nih-ncpi"}]},{"name":"Meen Chul Kim","telecom":[{"system":"email","value":"meenchul@d3b.center","use":"work"}]}],"description":"This value set includes all codes from Human Phenotype Ontology.","compose":{"include":[{"system":"http://purl.obolibrary.org/obo/hp.owl"}]}}},{"name":"_limit","valueString":"1000"},{"name":"_incomplete","valueString":"true"}]}


Response: 

422
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
connection:keep-alive
content-length:383
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:11:00 GMT
server:nginx
x-request-id:32-575581

{"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "
Unable to provide support for code system http://purl.obolibrary.org/obo/hp.owl
"},"issue" : [{"severity" : "error","code" : "not-supported","details" : {"text" : "Unable to provide support for code system http://purl.obolibrary.org/obo/hp.owl"}}]}

--- 55 -----------------
Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unstats.un.org/unsd/methods/m49/m49.htm","code":"001"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:209
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:11:13 GMT
last-modified:Fri, 15 Sep 2023 21:11:13 GMT
pragma:no-cache
server:nginx
x-request-id:32-575592

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://unstats.un.org/unsd/methods/m49/m49.htm"},{"name" : "code","valueCode" : "001"}]}

--- 56 -----------------
Request: 

POST http://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unstats.un.org/unsd/methods/m49/m49.htm","code":"001"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"url","valueUri":"http://hl7.org/fhir/ValueSet/jurisdiction--2|4.0.1"},{"name":"cache-id","valueId":"1c60316b-3cd4-49c3-ae27-260ce5c62c93"},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:209
content-type:application/fhir+json
date:Fri, 15 Sep 2023 21:11:14 GMT
last-modified:Fri, 15 Sep 2023 21:11:14 GMT
pragma:no-cache
server:nginx
x-request-id:32-575593

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://unstats.un.org/unsd/methods/m49/m49.htm"},{"name" : "code","valueCode" : "001"}]}