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770669004: Paternal uniparental disomy of chromosome 5 (disorder)


Status: current, Defined. Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3701935011 Paternal uniparental disomy of chromosome 5 (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3701936012 Paternal uniparental disomy of chromosome 5 en Synonym Active Case insensitive SNOMED CT core
3701937015 Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Paternal uniparental disomy of chromosome 5 Occurrence Congenital true Inferred relationship Some 1
Paternal uniparental disomy of chromosome 5 Finding site Chromosome pair 5 true Inferred relationship Some 1
Paternal uniparental disomy of chromosome 5 Is a Uniparental disomy of paternal origin true Inferred relationship Some
Paternal uniparental disomy of chromosome 5 Is a Anomaly of chromosome pair 5 true Inferred relationship Some
Paternal uniparental disomy of chromosome 5 Associated morphology Alteration of chromosome structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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