49024004: 4p 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 4\Partial trisomy of chromosome 4 (disorder)\4p partial trisomy syndrome

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 4 (disorder)\4p partial trisomy syndrome

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 4 (disorder)\4p partial trisomy syndrome
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 4 (disorder)\4p partial trisomy syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 4\Partial trisomy of chromosome 4 (disorder)\4p partial trisomy syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 4 (disorder)\4p 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

81675017 4p partial trisomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

81676016 Trisomy 4p syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

81677013 Trisomy for short arm of chromosome 4 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

786657013 4p partial trisomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4550011000241117 trisomie partielle 4p fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3411521001000118 Trisomie 4p de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
4p partial trisomy syndrome	Is a	Trisomy and partial trisomy of autosome	false	Inferred relationship	Some
4p partial trisomy syndrome	Is a	Anomaly of chromosome pair 4	false	Inferred relationship	Some
4p partial trisomy syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some
4p partial trisomy syndrome	Finding site	Chromosome pair 4 (cell structure)	false	Inferred relationship	Some	1
4p partial trisomy syndrome	Occurrence	Congenital	false	Inferred relationship	Some
4p partial trisomy syndrome	Associated morphology	Trisomy	false	Inferred relationship	Some
4p partial trisomy syndrome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
4p partial trisomy syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
4p partial trisomy syndrome	Finding site	Chromosome pair 4 (cell structure)	false	Inferred relationship	Some	1
4p partial trisomy syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Some
4p partial trisomy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
4p partial trisomy syndrome	Finding site	Chromosome pair 4 (cell structure)	true	Inferred relationship	Some	1
4p partial trisomy syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
4p partial trisomy syndrome	Is a	Partial trisomy of chromosome 4 (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported.	Is a	True	4p partial trisomy syndrome	Inferred relationship	Some

This concept is not in any reference sets