554003: 2p partial trisomy syndrome (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 2\Partial trisomy of chromosome 2 (disorder)\2p partial trisomy syndrome

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 2 (disorder)\2p partial trisomy syndrome

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 2 (disorder)\2p partial trisomy syndrome
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 2 (disorder)\2p partial trisomy syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 2\Partial trisomy of chromosome 2 (disorder)\2p partial trisomy syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 2 (disorder)\2p partial trisomy syndrome

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

2000017 2p partial trisomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

793752018 2p partial trisomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4384531000241116 trisomie partielle 2p 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
2p partial trisomy syndrome	Is a	Anomaly of chromosome pair 2	false	Inferred relationship	Some
2p partial trisomy syndrome	Is a	Trisomy and partial trisomy of autosome	false	Inferred relationship	Some
2p partial trisomy syndrome	Occurrence	Congenital	false	Inferred relationship	Some
2p partial trisomy syndrome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
2p partial trisomy syndrome	Associated morphology	Trisomy	false	Inferred relationship	Some
2p partial trisomy syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some
2p partial trisomy syndrome	Finding site	Chromosome pair 2	false	Inferred relationship	Some	1
2p partial trisomy syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
2p partial trisomy syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Some
2p partial trisomy syndrome	Finding site	Chromosome pair 2	false	Inferred relationship	Some	1
2p partial trisomy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
2p partial trisomy syndrome	Finding site	Chromosome pair 2	true	Inferred relationship	Some	1
2p partial trisomy syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
2p partial trisomy syndrome	Is a	Partial trisomy of chromosome 2 (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (including high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies.	Is a	True	2p partial trisomy syndrome	Inferred relationship	Some
Proximal duplication of short arm of chromosome 2 (disorder)	Is a	True	2p partial trisomy syndrome	Inferred relationship	Some

This concept is not in any reference sets