254273005: autosomale deletie - mozaïcisme (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)\Autosomal deletion - mosaicism

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome (disorder)\Autosomal deletion - 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

378507017 Autosomal deletion - mosaicism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

645143015 Autosomal deletion - mosaicism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

7877551000146115 autosomale deletie - mozaïcisme (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7877561000146117 autosomale deletie - mozaïcisme nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8765201000146113 mozaïekvorm van autosomale deletie nl Synonym (core metadata concept) 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
Autosomal deletion - mosaicism	Is a	Monosomy and deletion from autosome (disorder)	true	Inferred relationship	Some
Autosomal deletion - mosaicism	Occurrence	Congenital	false	Inferred relationship	Some
Autosomal deletion - mosaicism	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Autosomal deletion - mosaicism	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Autosomal deletion - mosaicism	Finding site	Chromosome structure	false	Inferred relationship	Some	1
Autosomal deletion - mosaicism	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
Autosomal deletion - mosaicism	Finding site	Chromosome structure	false	Inferred relationship	Some	1
Autosomal deletion - mosaicism	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal deletion - mosaicism	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Some	1
Autosomal deletion - mosaicism	Finding site	Chromosome	true	Inferred relationship	Some	1
Autosomal deletion - mosaicism	Associated morphology	Mosaicism	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets