56653005: syndroom van partiële monosomie 18p (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)\Deletion of part of autosome\Deletion of part of chromosome 18 (disorder)\Deletion of short arm of chromosome 18\18p partial monosomy syndrome

\Anomaly of chromosome pair 18\Deletion of part of chromosome 18 (disorder)\Deletion of short arm of chromosome 18\18p partial monosomy 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 18 (disorder)\Deletion of short arm of chromosome 18\18p partial monosomy syndrome

\Anomaly of chromosome pair 18\Deletion of part of chromosome 18 (disorder)\Deletion of short arm of chromosome 18\18p 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

94209016 18p partial monosomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

94210014 18p minus syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

795189012 18p partial monosomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

8026071000146114 syndroom van partiële monosomie 18p (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8026081000146111 partiële monosomie 18p nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8026091000146113 partiële monosomie van korte arm van chromosoom 18 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8026101000146118 syndroom van partiële monosomie 18p nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

10793171000146112 18p-deletie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

10793181000146114 Chromosoomafwijking met als gevolg onder meer een verstandelijke beperking, afwijkingen aan het gezicht, korte nek, trechterborst en kromme pinken. nl Definition Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
18p partial monosomy syndrome	Is a	Anomaly of chromosome pair 18	false	Inferred relationship	Some
18p partial monosomy syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some
18p partial monosomy syndrome	Associated morphology	Monosomy	false	Inferred relationship	Some
18p partial monosomy syndrome	Finding site	Chromosome pair 18	false	Inferred relationship	Some	1
18p partial monosomy syndrome	Associated morphology	Deletion of short arm	false	Inferred relationship	Some
18p partial monosomy syndrome	Occurrence	Congenital	false	Inferred relationship	Some
18p partial monosomy syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
18p partial monosomy syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
18p partial monosomy syndrome	Finding site	Chromosome pair 18	false	Inferred relationship	Some	1
18p partial monosomy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
18p partial monosomy syndrome	Finding site	Chromosome pair 18	true	Inferred relationship	Some	1
18p partial monosomy syndrome	Is a	Deletion of part of autosome	false	Inferred relationship	Some
18p partial monosomy syndrome	Associated morphology	Deletion of short arm	true	Inferred relationship	Some	1
18p partial monosomy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
18p partial monosomy syndrome	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2
18p partial monosomy syndrome	Finding site	Chromosome pair 18	true	Inferred relationship	Some	2
18p partial monosomy syndrome	Is a	Deletion of part of chromosome 18 (disorder)	false	Inferred relationship	Some
18p partial monosomy syndrome	Is a	Deletion of short arm of chromosome 18	true	Inferred relationship	Some

Inbound Relationships

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Characteristic

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This concept is not in any reference sets