77497005: 3p 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 3\Partial trisomy of chromosome 3\3p partial trisomy syndrome

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 3\3p partial trisomy syndrome

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 3\3p partial trisomy syndrome
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 3\3p partial trisomy syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 3\Partial trisomy of chromosome 3\3p partial trisomy syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 3\3p 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

128651018 3p partial trisomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

818333016 3p partial trisomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4642971000241117 trisomie partielle 3p 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
3p partial trisomy syndrome	Is a	Anomaly of chromosome pair 3	false	Inferred relationship	Some
3p partial trisomy syndrome	Is a	Trisomy and partial trisomy of autosome	false	Inferred relationship	Some
3p partial trisomy syndrome	Finding site	Chromosome pair 3	false	Inferred relationship	Some	1
3p partial trisomy syndrome	Occurrence	Congenital	false	Inferred relationship	Some
3p partial trisomy syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some
3p partial trisomy syndrome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
3p partial trisomy syndrome	Associated morphology	Trisomy	false	Inferred relationship	Some
3p partial trisomy syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
3p partial trisomy syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Some
3p partial trisomy syndrome	Finding site	Chromosome pair 3	false	Inferred relationship	Some	1
3p partial trisomy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
3p partial trisomy syndrome	Finding site	Chromosome pair 3	true	Inferred relationship	Some	1
3p partial trisomy syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
3p partial trisomy syndrome	Is a	Partial trisomy of chromosome 3	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (including brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers.	Is a	True	3p partial trisomy syndrome	Inferred relationship	Some
Proximal duplication of short arm of chromosome 3	Is a	True	3p partial trisomy syndrome	Inferred relationship	Some

Reference Sets