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15841002: 21q partial monosomy syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
26840010 21q partial monosomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
26841014 21q partial proximal monosomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
742746014 21q partial monosomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4441631000241117 monosomie partielle 21q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3452781001000114 Monosomie 21 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
21q partial monosomy syndrome Is a Deletion of part of autosome false Inferred relationship Some
21q partial monosomy syndrome Is a Anomaly of chromosome pair 21 false Inferred relationship Some
21q partial monosomy syndrome Finding site Sex chromosome false Inferred relationship Some
21q partial monosomy syndrome Occurrence Congenital false Inferred relationship Some
21q partial monosomy syndrome Finding site Chromosome pair 21 false Inferred relationship Some 1
21q partial monosomy syndrome Associated morphology Alteration of chromosome structure false Inferred relationship Some
21q partial monosomy syndrome Associated morphology Monosomy false Inferred relationship Some
21q partial monosomy syndrome Associated morphology anomalie congénitale false Inferred relationship Some 1
21q partial monosomy syndrome Associated morphology anomalie congénitale false Inferred relationship Some
21q partial monosomy syndrome Finding site Chromosome pair 21 false Inferred relationship Some 1
21q partial monosomy syndrome Occurrence Congenital true Inferred relationship Some 1
21q partial monosomy syndrome Finding site Chromosome pair 21 true Inferred relationship Some 1
21q partial monosomy syndrome Associated morphology Deletion of long arm true Inferred relationship Some 1
21q partial monosomy syndrome Occurrence Congenital true Inferred relationship Some 2
21q partial monosomy syndrome Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
21q partial monosomy syndrome Finding site Chromosome pair 21 true Inferred relationship Some 2
21q partial monosomy syndrome Is a Deletion of part of chromosome 21 (disorder) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
A rare, genetic, chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 21 characterized by pre- and post-natal growth delay, short stature, intellectual disability, developmental delay with severe language impairment, thrombocytopenia, and craniofacial dysmorphism which may include microcephaly, downslanted palpebral fissures, low-set ears, broad nose, thin upper vermillion, and downturned corners of the mouth. Brain MRI abnormalities (such as agenesis of the corpus callosum), behavioral problems and seizures may be associated. Is a True 21q partial monosomy syndrome Inferred relationship Some

This concept is not in any reference sets

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