Summary
- IRI
- SEPIO:0000416
- Name
- Inheritance Pattern Value Set
- Description
- Classifies the transmission pattern of a condition in a pedigree. (see LOINC Answer List https://r.details.loinc.org/AnswerList/LL3731-8.html)
Included Codes
This value set includes codes from the following identifier systems:
- Include any concept from
http://purl.obolibrary.org/obo/hp#
( Human Phenotype Ontology ) - Include any concept from
http://purl.obolibrary.org/obo/geno#
( GENO )
Expansion
This value set is extensible and therefore can be extended to include concepts from the listed identifier systems by adding on the fly concepts defined by a sending system if no viable option from any of the identifier systems is acceptable.
This value set contains 25 concepts.
IRI | Label | Description |
---|---|---|
GENO:0000143 | Codominant inheritance | |
GENO:0000889 | Unknown inheritance | |
GENO:0000892 | Mitochondrial inheritance (primarily or exclusively heteroplasmic) | |
GENO:0000893 | Mitochondrial inheritance (primarily or exclusively homoplasmic) | |
HP:0000006 | Autosomal dominant inheritance | |
HP:0000007 | Autosomal recessive inheritance | |
HP:0001417 | X-linked inheritance | |
HP:0001419 | X-linked inheritance (recessive) | |
HP:0001423 | X-linked inheritance (dominant) | |
HP:0001426 | Multifactorial inheritance | |
HP:0001427 | Mitochondrial inheritance | |
HP:0001428 | Somatic mutation | |
HP:0001450 | Y-linked inheritance | |
HP:0001470 | Autosomal dominant inheritance (sex-limited) | |
HP:0003743 | Genetic anticipation | |
HP:0003745 | Sporadic | |
HP:0010983 | Oligogenic | |
HP:0012274 | Autosomal dominant inheritance (with paternal imprinting) | |
HP:0012275 | Autosomal dominant inheritance (with maternal imprinting) | |
HP:0025352 | Autosomal dominant inheritance (primarily or exclusively de novo) | |
HP:0031362 | Autosomal recessive inheritance (sex-limited) | |
SEPIO-CG:97020 | Semidominant inheritance | |
SEPIO-CG:97021 | X-linked inheritance (primarily recessive with milder female expression) | |
SEPIO-CG:97022 | Autosomal dominant inheritance (with genetic anticipation) | |
SEPIO-CG:97023 | Autosomal recessive inheritance (with genetic anticipation) |