205638002: mozaïekvorm van monosomie 21 (aandoening)

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

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome (disorder)\Monosomy 21, mosaicism

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome (disorder)\Monosomy 21, mosaicism

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

315377015 Monosomy 21, mosaicism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
591035015 Monosomy 21, mosaicism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
8709821000146117 mozaïcisme van monosomie 21 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8717231000146112 mozaïekvorm van monosomie 21 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8717241000146116 mozaïekvorm van monosomie 21 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Monosomy 21, mosaicism	Is a	Monosomy and deletion from autosome (disorder)	true	Inferred relationship	Some
Monosomy 21, mosaicism	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Monosomy 21, mosaicism	Occurrence	Congenital	false	Inferred relationship	Some
Monosomy 21, mosaicism	Finding site	Chromosome structure	false	Inferred relationship	Some	1
Monosomy 21, mosaicism	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Monosomy 21, mosaicism	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
Monosomy 21, mosaicism	Finding site	Chromosome structure	false	Inferred relationship	Some	1
Monosomy 21, mosaicism	Occurrence	Congenital	true	Inferred relationship	Some	1
Monosomy 21, mosaicism	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Some	1
Monosomy 21, mosaicism	Finding site	Chromosome	true	Inferred relationship	Some	1

Inbound Relationships

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Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets