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766240006: Maternal uniparental disomy of chromosome 9 (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3661205019 Maternal uniparental disomy of chromosome 9 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3661206018 Maternal uniparental disomy of chromosome 9 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3661207010 Maternal uniparental disomy of chromosome 9 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Maternal uniparental disomy of chromosome 9 Is a Anomaly of chromosome pair 9 true Inferred relationship Some
Maternal uniparental disomy of chromosome 9 Is a Uniparental disomy of maternal origin (disorder) true Inferred relationship Some
Maternal uniparental disomy of chromosome 9 Finding site Chromosome pair 9 true Inferred relationship Some 1
Maternal uniparental disomy of chromosome 9 Associated morphology Alteration of chromosome structure true Inferred relationship Some 1
Maternal uniparental disomy of chromosome 9 Occurrence Congenital true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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