890117001: 20p12.2-deletiesyndroom (aandoening)

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

\Disorder of foetus and/or newborn\Congenital disease (disorder)\...

\Congenital malformation\20p12.2 deletion syndrome (disorder)

\Congenital chromosomal disease\Anomaly of chromosome pair\...

\Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 20 (disorder)\Deletion of part of short arm of chromosome 20 (disorder)\20p12.2 deletion syndrome (disorder)

\Anomaly of chromosome pair 20\Deletion of part of chromosome 20 (disorder)\Deletion of part of short arm of chromosome 20 (disorder)\20p12.2 deletion syndrome (disorder)

\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 20 (disorder)\Deletion of part of short arm of chromosome 20 (disorder)\20p12.2 deletion syndrome (disorder)

\Anomaly of chromosome pair 20\Deletion of part of chromosome 20 (disorder)\Deletion of part of short arm of chromosome 20 (disorder)\20p12.2 deletion syndrome (disorder)

\Developmental disorder\Congenital malformation\20p12.2 deletion syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4011190014 20p12.2 deletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4011191013 20p12.2 deletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
11963341000146118 20p12.2-deletiesyndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
11963351000146115 20p12.2-deletiesyndroom (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12270781000146113 20p12.2DS nl Synonym (core metadata concept) Active Only initial character 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
20p12.2 deletion syndrome (disorder)	Is a	Deletion of part of short arm of chromosome 20 (disorder)	true	Inferred relationship	Some
20p12.2 deletion syndrome (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
20p12.2 deletion syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
20p12.2 deletion syndrome (disorder)	Finding site	Chromosome pair 20	true	Inferred relationship	Some	1
20p12.2 deletion syndrome (disorder)	Finding site	Chromosome pair 20	false	Inferred relationship	Some	2
20p12.2 deletion syndrome (disorder)	Associated morphology	Deletion of short arm	false	Inferred relationship	Some	2
20p12.2 deletion syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
20p12.2 deletion syndrome (disorder)	Is a	Congenital malformation	true	Inferred relationship	Some
20p12.2 deletion syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
20p12.2 deletion syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
20p12.2 deletion syndrome (disorder)	Finding site	Short arm of chromosome	true	Inferred relationship	Some	2
20p12.2 deletion syndrome (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets