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715735007: Maternal uniparental disomy of chromosome 20 (disorder)


Status: current, Sufficiently defined by necessary conditions definition status. Date: 31-Jul 2021. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3303561019 Maternal uniparental disomy of chromosome 20 (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3303562014 Maternal uniparental disomy of chromosome 20 en Synonym Active Entire term case insensitive SNOMED CT core module
3303563016 Maternal UPD20 (uniparental disomy of chromosome 20) en Synonym Active Only initial character case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Maternal uniparental disomy of chromosome 20 Is a Anomaly of chromosome pair 20 true Inferred relationship Existential restriction modifier
Maternal uniparental disomy of chromosome 20 Is a Autosomal chromosomal disorder false Inferred relationship Existential restriction modifier
Maternal uniparental disomy of chromosome 20 Associated morphology Cellular AND/OR subcellular abnormality false Inferred relationship Existential restriction modifier 1
Maternal uniparental disomy of chromosome 20 Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Maternal uniparental disomy of chromosome 20 Finding site Chromosome pair 20 true Inferred relationship Existential restriction modifier 1
Maternal uniparental disomy of chromosome 20 Is a Uniparental disomy of maternal origin true Inferred relationship Existential restriction modifier
Maternal uniparental disomy of chromosome 20 Associated morphology Alteration of chromosome structure true Inferred relationship Existential restriction modifier 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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