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770668007: Paternal uniparental disomy of chromosome 13 (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3701932014 Paternal uniparental disomy of chromosome 13 en Synonym Active Case insensitive SNOMED CT core
3701933016 Paternal uniparental disomy of chromosome 13 (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3701934010 Paternal uniparental disomy of chromosome 13 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 13 Is a Uniparental disomy of paternal origin true Inferred relationship Some
Paternal uniparental disomy of chromosome 13 Is a Anomaly of chromosome pair 13 true Inferred relationship Some
Paternal uniparental disomy of chromosome 13 Finding site Chromosome pair 13 true Inferred relationship Some 1
Paternal uniparental disomy of chromosome 13 Occurrence Congenital true Inferred relationship Some 1
Paternal uniparental disomy of chromosome 13 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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