726344001: Partial trisomy of long arm 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\Partial trisomy of long arm of chromosome 5

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

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

3498279018 Partial trisomy of long arm of chromosome 5 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498280015 Duplication of long arm of chromosome 5 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498281016 Partial trisomy of long arm of chromosome 5 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

909261000172119 duplication partielle du bras long du chromosome 5 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

921161000172116 trisomie partielle du bras long 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 long arm of chromosome 5	Is a	Partial trisomy of chromosome 5	true	Inferred relationship	Some
Partial trisomy of long arm of chromosome 5	Associated morphology	Partial trisomy	true	Inferred relationship	Some	2
Partial trisomy of long arm of chromosome 5	Occurrence	Congenital	true	Inferred relationship	Some	2
Partial trisomy of long arm of chromosome 5	Associated morphology	Partial trisomy	true	Inferred relationship	Some	3
Partial trisomy of long arm of chromosome 5	Occurrence	Congenital	true	Inferred relationship	Some	3
Partial trisomy of long arm of chromosome 5	Finding site	Chromosome pair 5	true	Inferred relationship	Some	2
Partial trisomy of long arm of chromosome 5	Finding site	Long arm of chromosome	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation.	Is a	True	Partial trisomy of long arm of chromosome 5	Inferred relationship	Some
Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism).	Is a	True	Partial trisomy of long arm of chromosome 5	Inferred relationship	Some
Proximal duplication of long arm of chromosome 5 (disorder)	Is a	True	Partial trisomy of long arm of chromosome 5	Inferred relationship	Some
Medial duplication of long arm of chromosome 5 (disorder)	Is a	True	Partial trisomy of long arm of chromosome 5	Inferred relationship	Some

This concept is not in any reference sets