880086001: 12q24.31-q24.32-deletiesyndroom (aandoening)

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

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

\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\12q24.31-q24.32 deletion syndrome

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

\Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 12 (disorder)\Deletion of part of long arm of chromosome 12 (disorder)\12q24.31-q24.32 deletion syndrome

\Anomaly of chromosome pair 12\Deletion of part of chromosome 12 (disorder)\Deletion of part of long arm of chromosome 12 (disorder)\12q24.31-q24.32 deletion syndrome

\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 12 (disorder)\Deletion of part of long arm of chromosome 12 (disorder)\12q24.31-q24.32 deletion syndrome

\Anomaly of chromosome pair 12\Deletion of part of chromosome 12 (disorder)\Deletion of part of long arm of chromosome 12 (disorder)\12q24.31-q24.32 deletion syndrome

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\12q24.31-q24.32 deletion syndrome

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

4009247014 12q24.31-q24.32 deletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4009248016 12q24.31-q24.32 deletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

11963001000146119 12q24.31-q24.32-deletiesyndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11963011000146117 12q24.31-q24.32-deletiesyndroom (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12270751000146115 12q24.31-q24.32DS 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
12q24.31-q24.32 deletion syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
12q24.31-q24.32 deletion syndrome	Is a	Deletion of part of long arm of chromosome 12 (disorder)	true	Inferred relationship	Some
12q24.31-q24.32 deletion syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
12q24.31-q24.32 deletion syndrome	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
12q24.31-q24.32 deletion syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
12q24.31-q24.32 deletion syndrome	Finding site	Chromosome pair 12	true	Inferred relationship	Some	1
12q24.31-q24.32 deletion syndrome	Associated morphology	Deletion of long arm	false	Inferred relationship	Some	2
12q24.31-q24.32 deletion syndrome	Finding site	Chromosome pair 12	false	Inferred relationship	Some	2
12q24.31-q24.32 deletion syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
12q24.31-q24.32 deletion syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
12q24.31-q24.32 deletion syndrome	Finding site	Long arm of chromosome	true	Inferred relationship	Some	2
12q24.31-q24.32 deletion syndrome	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2

Inbound Relationships

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Characteristic

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This concept is not in any reference sets