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770562000: maternale uniparentale disomie van chromosoom 1 (aandoening)

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
3701284010 Maternal uniparental disomy of chromosome 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3701285011 Maternal uniparental disomy of chromosome 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
10221121000146113 maternale uniparentale disomie van chromosoom 1 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
10221131000146110 maternale uniparentale disomie van chromosoom 1 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
10613721000146117 UPD(1)mat nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3701286012 A uniparental disomy of chromosome 1 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

0 descendants.

Expanded Value Set

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

This concept is not in any reference sets

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