111309008: 8q 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 8\Partial trisomy of chromosome 8\8q partial trisomy syndrome

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 8\8q partial trisomy syndrome

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 8\8q partial trisomy syndrome
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 8\8q partial trisomy syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 8\Partial trisomy of chromosome 8\8q partial trisomy syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 8\8q 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

178541010 8q partial trisomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

630185017 8q partial trisomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4750051000241117 trisomie partielle 8q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3420541001000110 Trisomie 8q 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
8q partial trisomy syndrome	Is a	Anomaly of chromosome pair 8	false	Inferred relationship	Some
8q partial trisomy syndrome	Is a	Trisomy and partial trisomy of autosome	false	Inferred relationship	Some
8q partial trisomy syndrome	Occurrence	Congenital	false	Inferred relationship	Some
8q partial trisomy syndrome	Finding site	Chromosome pair 8	false	Inferred relationship	Some	1
8q partial trisomy syndrome	Associated morphology	Trisomy	false	Inferred relationship	Some
8q partial trisomy syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some
8q partial trisomy syndrome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
8q partial trisomy syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
8q partial trisomy syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Some
8q partial trisomy syndrome	Finding site	Chromosome pair 8	false	Inferred relationship	Some	1
8q partial trisomy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
8q partial trisomy syndrome	Finding site	Chromosome pair 8	true	Inferred relationship	Some	1
8q partial trisomy syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
8q partial trisomy syndrome	Is a	Partial trisomy of chromosome 8	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly.	Is a	True	8q partial trisomy syndrome	Inferred relationship	Some
Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8, with a highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects and skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss, and seizures).	Is a	True	8q partial trisomy syndrome	Inferred relationship	Some
Proximal duplication of long arm of chromosome 8 (disorder)	Is a	True	8q partial trisomy syndrome	Inferred relationship	Some

This concept is not in any reference sets