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773299000: Maternal uniparental disomy of chromosome 16 (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
3723035011 Maternal uniparental disomy of chromosome 16 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3723036012 Maternal uniparental disomy of chromosome 16 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3722996018 A uniparental disomy of maternal origin which may be associated with intrauterine growth retardation and an elevated risk of congenital malformations. Healthy carriers have also been reported. In addition, cases of homozygosity for a recessive disease mutation for which the mother was a carrier have been described and specific phenotype depends on the inherited disorder. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3723035011 Maternal uniparental disomy of chromosome 16 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3723036012 Maternal uniparental disomy of chromosome 16 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3722996018 A uniparental disomy of maternal origin which may be associated with intrauterine growth retardation and an elevated risk of congenital malformations. Healthy carriers have also been reported. In addition, cases of homozygosity for a recessive disease mutation for which the mother was a carrier have been described and specific phenotype depends on the inherited disorder. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3447671001000116 Uniparentale Disomie 16, maternale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
928271000172111 disomie uniparentale maternelle du chromosome 16 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
928271000172111 disomie uniparentale maternelle du chromosome 16 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3447671001000116 Uniparentale Disomie 16, maternale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Maternal uniparental disomy of chromosome 16 Finding site Chromosome pair 16 (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Maternal uniparental disomy of chromosome 16 Associated morphology Alteration of chromosome structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Maternal uniparental disomy of chromosome 16 Is a Uniparental disomy of maternal origin (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Maternal uniparental disomy of chromosome 16 Is a Anomaly of chromosome pair 16 true Inferred relationship Existential restriction modifier (core metadata concept)
Maternal uniparental disomy of chromosome 16 Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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