76447002: 6q partial trisomy syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Disorder of foetus and/or newborn\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\...

\Anomaly of chromosome pair\Anomaly of chromosome pair 6\Partial trisomy of chromosome 6\6q partial trisomy syndrome

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 6\6q partial trisomy syndrome

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 6\6q partial trisomy syndrome
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 6\6q partial trisomy syndrome
\Chromosomal disorder (disorder)\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Anomaly of chromosome pair\Anomaly of chromosome pair 6\Partial trisomy of chromosome 6\6q partial trisomy syndrome
\Chromosomal disorder (disorder)\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 6\6q 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

126957014 6q partial trisomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

817168011 6q partial trisomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2016171000005115 partiel trisomi 6q-syndrom da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
6q partial trisomy syndrome	Is a	Anomaly of chromosome pair 6	false	Inferred relationship	Some
6q partial trisomy syndrome	Is a	Trisomy and partial trisomy of autosome	false	Inferred relationship	Some
6q partial trisomy syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some
6q partial trisomy syndrome	Occurrence	Congenital	false	Inferred relationship	Some
6q partial trisomy syndrome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
6q partial trisomy syndrome	Finding site	Chromosome pair 6	false	Inferred relationship	Some	1
6q partial trisomy syndrome	Associated morphology	Trisomy	false	Inferred relationship	Some
6q partial trisomy syndrome	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
6q partial trisomy syndrome	Finding site	Chromosome pair 6	false	Inferred relationship	Some	1
6q partial trisomy syndrome	Associated morphology	kongenit anomali	false	Inferred relationship	Some
6q partial trisomy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
6q partial trisomy syndrome	Finding site	Chromosome pair 6	true	Inferred relationship	Some	1
6q partial trisomy syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
6q partial trisomy syndrome	Is a	Partial trisomy of chromosome 6	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short, webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported.	Is a	True	6q partial trisomy syndrome	Inferred relationship	Some
Proximal duplication of long arm of chromosome 6 (disorder)	Is a	True	6q partial trisomy syndrome	Inferred relationship	Some

Reference Sets