15841002: 21q partial monosomy 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\...

\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 21 (disorder)\21q partial monosomy syndrome

\Anomaly of chromosome pair 21\Deletion of part of chromosome 21 (disorder)\21q partial monosomy syndrome

\Chromosomal disorder (disorder)\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Anomaly of chromosome pair\...

\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 21 (disorder)\21q partial monosomy syndrome

\Anomaly of chromosome pair 21\Deletion of part of chromosome 21 (disorder)\21q partial monosomy 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

26840010 21q partial monosomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

26841014 21q partial proximal monosomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

742746014 21q partial monosomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1982581000005119 partiel monosomi 21q-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
21q partial monosomy syndrome	Is a	Deletion of part of autosome	false	Inferred relationship	Some
21q partial monosomy syndrome	Is a	Anomaly of chromosome pair 21	false	Inferred relationship	Some
21q partial monosomy syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some
21q partial monosomy syndrome	Occurrence	Congenital	false	Inferred relationship	Some
21q partial monosomy syndrome	Finding site	Chromosome pair 21	false	Inferred relationship	Some	1
21q partial monosomy syndrome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
21q partial monosomy syndrome	Associated morphology	Monosomy	false	Inferred relationship	Some
21q partial monosomy syndrome	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
21q partial monosomy syndrome	Associated morphology	kongenit anomali	false	Inferred relationship	Some
21q partial monosomy syndrome	Finding site	Chromosome pair 21	false	Inferred relationship	Some	1
21q partial monosomy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
21q partial monosomy syndrome	Finding site	Chromosome pair 21	true	Inferred relationship	Some	1
21q partial monosomy syndrome	Associated morphology	Deletion of long arm	true	Inferred relationship	Some	1
21q partial monosomy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
21q partial monosomy syndrome	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2
21q partial monosomy syndrome	Finding site	Chromosome pair 21	true	Inferred relationship	Some	2
21q partial monosomy syndrome	Is a	Deletion of part of chromosome 21 (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare genetic chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 21. The disease has characteristics of pre and post-natal growth delay, short stature, intellectual disability, developmental delay with severe language impairment, thrombocytopenia and craniofacial dysmorphism which may include microcephaly, downslanted palpebral fissures, low-set ears, broad nose, thin upper vermillion and downturned corners of the mouth. Brain MRI abnormalities (such as agenesis of the corpus callosum) behavioural problems and seizures may be associated.	Is a	True	21q partial monosomy syndrome	Inferred relationship	Some

This concept is not in any reference sets