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726400003: Uniparental disomy (disorder)


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

Descriptions:

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


30 descendants. Search Descendants:

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group
Uniparental disomy of maternal origin (disorder) Is a True Uniparental disomy (disorder) Inferred relationship Some
Uniparental disomy of paternal origin (disorder) Is a True Uniparental disomy (disorder) Inferred relationship Some

This concept is not in any reference sets

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