15841002: 21q partial monosomy syndrome (disorder)

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

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\...

\Monosomy and deletion from autosome (disorder)\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

\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\...

\Monosomy and deletion from autosome (disorder)\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

2480261000052118 partiellt monosomi 21q-syndrom sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained 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	kongenital anomali	false	Inferred relationship	Some	1
21q partial monosomy syndrome	Associated morphology	kongenital 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
21q22.11q22.12 microdeletion syndrome	Is a	True	21q partial monosomy syndrome	Inferred relationship	Some

This concept is not in any reference sets