NCPI FHIR Implementation Guide - Local Development build (v0.2.0). See the Directory of published versions
ValueSet: Condition Inheritance Pattern
| Official URL: https://nih-ncpi.github.io/ncpi-fhir-ig/ValueSet/condition-inheritance-vs | Version: 0.2.0 | |||
| Active as of 2023-09-15 |
Realm: 
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Computable Name: ConditionInheritanceModeVS | ||
Value Set for specific ttransmission patterns of a condition in a pedigree
References
This value set is not used here; it may be used elsewhere (e.g. specifications and/or implementations that use this content)
Logical Definition (CLD)
- Include all codes defined in
https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceMode
Expansion
This value set contains 25 concepts
Expansion based on codesystem Condition Inheritance Pattern v0.2.0 (CodeSystem)
| Code | System | Display |
| GENO:0000143 | https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceMode | Codominant inheritance |
| GENO:0000889 | https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceMode | Unknown inheritance |
| GENO:0000892 | https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceMode | Mitochondrial inheritance (primarily or exclusively heteroplasmic) |
| GENO:0000893 | https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceMode | Mitochondrial inheritance (primarily or exclusively homoplasmic) |
| HP:0000006 | https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceMode | Autosomal dominant inheritance |
| HP:0000007 | https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceMode | Autosomal recessive inheritance |
| HP:0001417 | https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceMode | X-linked inheritance |
| HP:0001419 | https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceMode | X-linked inheritance (recessive) |
| HP:0001423 | https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceMode | X-linked inheritance (dominant) |
| HP:0001426 | https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceMode | Multifactorial inheritance |
| HP:0001427 | https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceMode | Mitochondrial inheritance |
| HP:0001428 | https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceMode | Somatic mutation |
| HP:0001450 | https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceMode | Y-linked inheritance |
| HP:0001470 | https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceMode | Autosomal dominant inheritance (sex-limited) |
| HP:0003743 | https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceMode | Genetic anticipation |
| HP:0003745 | https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceMode | Sporadic |
| HP:0010983 | https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceMode | Oligogenic |
| HP:0012274 | https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceMode | Autosomal dominant inheritance (with paternal imprinting) |
| HP:0012275 | https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceMode | Autosomal dominant inheritance (with maternal imprinting) |
| HP:0025352 | https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceMode | Autosomal dominant inheritance (primarily or exclusively de novo) |
| HP:0031362 | https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceMode | Autosomal recessive inheritance (sex-limited) |
| SEPIO-CG:97020 | https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceMode | Semidominant inheritance |
| SEPIO-CG:97021 | https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceMode | X-linked inheritance (primarily recessive with milder female expression) |
| SEPIO-CG:97022 | https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceMode | Autosomal dominant inheritance (with genetic anticipation) |
| SEPIO-CG:97023 | https://nih-ncpi.github.io/ncpi-fhir-ig/CodeSystem/ConditionInheritanceMode | Autosomal recessive inheritance (with genetic anticipation) |
Explanation of the columns that may appear on this page:
| Level | A few code lists that FHIR defines are hierarchical - each code is assigned a level. In this scheme, some codes are under other codes, and imply that the code they are under also applies |
| System | The source of the definition of the code (when the value set draws in codes defined elsewhere) |
| Code | The code (used as the code in the resource instance) |
| Display | The display (used in the display element of a Coding). If there is no display, implementers should not simply display the code, but map the concept into their application |
| Definition | An explanation of the meaning of the concept |
| Comments | Additional notes about how to use the code |