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74008005: Partial trisomy of short arm of chromosome 5 (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
4565130013 5p partial trisomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4565139014 Partial trisomy of short arm of chromosome 5 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4565140011 Partial trisomy of short arm of chromosome 5 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4632331000241119 trisomie partielle 5p fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3388761001000116 Trisomie 5p 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
5p partial trisomy Is a Trisomy and partial trisomy of autosome false Inferred relationship Some
5p partial trisomy Is a Anomaly of chromosome pair 5 false Inferred relationship Some
5p partial trisomy Finding site Chromosome pair 5 false Inferred relationship Some 1
5p partial trisomy Finding site Sex chromosome false Inferred relationship Some
5p partial trisomy Occurrence Congenital false Inferred relationship Some
5p partial trisomy Associated morphology Trisomy false Inferred relationship Some
5p partial trisomy Associated morphology Alteration of chromosome structure false Inferred relationship Some
5p partial trisomy Associated morphology anomalie congénitale false Inferred relationship Some 1
5p partial trisomy Associated morphology anomalie congénitale false Inferred relationship Some
5p partial trisomy Finding site Chromosome pair 5 false Inferred relationship Some 1
5p partial trisomy Occurrence Congenital true Inferred relationship Some 1
5p partial trisomy Finding site Chromosome pair 5 true Inferred relationship Some 1
5p partial trisomy Associated morphology Partial trisomy true Inferred relationship Some 1
5p partial trisomy Is a Partial trisomy of chromosome 5 true Inferred relationship Some
5p partial trisomy Occurrence Congenital true Inferred relationship Some 2
5p partial trisomy Finding site Short arm of chromosome true Inferred relationship Some 2
5p partial trisomy Associated morphology Partial trisomy true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
A rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes). Is a True 5p partial trisomy Inferred relationship Some

This concept is not in any reference sets

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