726343007: Partial trisomy of chromosome 5 (disorder)

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

\Fetal and/or neonatal disorder\Congenital disease\Congenital chromosomal disease\...

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

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

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 5
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 5
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 5\Partial trisomy of chromosome 5
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 5

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3498276013 Duplication of chromosome 5 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498277016 Partial trisomy of chromosome 5 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498278014 Partial trisomy of chromosome 5 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5489421000241118 trisomie partielle du chromosome 5 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Partial trisomy of chromosome 5	Is a	Anomaly of chromosome pair 5	true	Inferred relationship	Some
Partial trisomy of chromosome 5	Is a	Trisomy and partial trisomy of autosome	true	Inferred relationship	Some
Partial trisomy of chromosome 5	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
Partial trisomy of chromosome 5	Occurrence	Congenital	true	Inferred relationship	Some	1
Partial trisomy of chromosome 5	Finding site	Chromosome pair 5	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
5p partial trisomy	Is a	True	Partial trisomy of chromosome 5	Inferred relationship	Some
The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation.	Is a	False	Partial trisomy of chromosome 5	Inferred relationship	Some
Partial trisomy of long arm of chromosome 5	Is a	True	Partial trisomy of chromosome 5	Inferred relationship	Some
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	False	Partial trisomy of chromosome 5	Inferred relationship	Some
Medial duplication of long arm of chromosome 5 (disorder)	Is a	False	Partial trisomy of chromosome 5	Inferred relationship	Some

This concept is not in any reference sets