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726400003: Uniparental disomy (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3448869014 Uniparental disomy (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3448870010 Uniparental disomy en Synonym Active Entire term case insensitive SNOMED CT core module


30 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Uniparental disomy Is a Anomaly of chromosome pair true Inferred relationship Existential restriction modifier
Uniparental disomy Is a Autosomal chromosomal disorder false Inferred relationship Existential restriction modifier
Uniparental disomy Associated morphology Alteration of chromosome structure true Inferred relationship Existential restriction modifier 1
Uniparental disomy Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Uniparental disomy Finding site Chromosome true Inferred relationship Existential restriction modifier 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Uniparental disomy of maternal origin Is a True Uniparental disomy Inferred relationship Existential restriction modifier
Uniparental disomy of paternal origin Is a True Uniparental disomy Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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