74008005: Partial trisomy of short arm of chromosome 5 (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Disorder of foetus and/or newborn\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\...

\Anomaly of chromosome pair\Anomaly of chromosome pair 5\Partial trisomy of chromosome 5\5p partial trisomy

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 5\5p partial trisomy

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 5\5p partial trisomy
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 5\5p partial trisomy
\Chromosomal disorder (disorder)\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Anomaly of chromosome pair\Anomaly of chromosome pair 5\Partial trisomy of chromosome 5\5p partial trisomy
\Chromosomal disorder (disorder)\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 5\5p partial trisomy

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

2709991000005110 partiel trisomi 5p-syndrom da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

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	kongenit anomali	false	Inferred relationship	Some	1
5p partial trisomy	Associated morphology	kongenit anomali	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