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766239009: Maternal uniparental disomy of chromosome 6 (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
3661202016 Maternal uniparental disomy of chromosome 6 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3661203014 Maternal uniparental disomy of chromosome 6 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5404599018 Maternal uniparental disomy of chromosome 6 is a uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404600015 Maternal uniparental disomy of chromosome 6 is a uniparental disomy of maternal origin characterised by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3661202016 Maternal uniparental disomy of chromosome 6 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3661203014 Maternal uniparental disomy of chromosome 6 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3661204015 Maternal uniparental disomy of chromosome 6 is a uniparental disomy of maternal origin with manifestation of intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404599018 Maternal uniparental disomy of chromosome 6 is a uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404600015 Maternal uniparental disomy of chromosome 6 is a uniparental disomy of maternal origin characterised by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3445881001000111 Uniparentale Disomie 6, maternale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
938681000172113 disomie uniparentale maternelle du chromosome 6 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
938681000172113 disomie uniparentale maternelle du chromosome 6 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3445881001000111 Uniparentale Disomie 6, 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 6 (disorder) Finding site Chromosome pair 6 (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Maternal uniparental disomy of chromosome 6 (disorder) Is a Uniparental disomy of maternal origin (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Maternal uniparental disomy of chromosome 6 (disorder) Associated morphology Alteration of chromosome structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Maternal uniparental disomy of chromosome 6 (disorder) Is a Anomaly of chromosome pair 6 true Inferred relationship Existential restriction modifier (core metadata concept)
Maternal uniparental disomy of chromosome 6 (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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