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770563005: Maternal uniparental disomy of chromosome 13 (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
3701287015 Maternal uniparental disomy of chromosome 13 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3701288013 Maternal uniparental disomy of chromosome 13 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5404809016 Maternal uniparental disomy of chromosome 13 is a uniparental disomy of maternal origin that most likely do 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
3701287015 Maternal uniparental disomy of chromosome 13 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3701288013 Maternal uniparental disomy of chromosome 13 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3701289017 A uniparental disomy of chromosome 13 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 the mother is a carrier. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404809016 Maternal uniparental disomy of chromosome 13 is a uniparental disomy of maternal origin that most likely do 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
3427341001000117 Uniparentale Disomie 13, maternale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
908331000172111 disomie uniparentale maternelle du chromosome 13 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
908331000172111 disomie uniparentale maternelle du chromosome 13 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3427341001000117 Uniparentale Disomie 13, 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 13 Finding site Chromosome pair 13 true Inferred relationship Existential restriction modifier (core metadata concept) 1
Maternal uniparental disomy of chromosome 13 Associated morphology Alteration of chromosome structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Maternal uniparental disomy of chromosome 13 Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Maternal uniparental disomy of chromosome 13 Is a Anomaly of chromosome pair 13 true Inferred relationship Existential restriction modifier (core metadata concept)
Maternal uniparental disomy of chromosome 13 Is a Uniparental disomy of maternal origin (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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