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83585001: syndroom van partiële proximale trisomie 14q (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\14q partial proximal trisomy syndrome

\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 14\Partial trisomy of chromosome 14 (disorder)\14q partial trisomy (disorder)\14q partial proximal trisomy syndrome
\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 14 (disorder)\14q partial trisomy (disorder)\14q partial proximal trisomy syndrome

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 14 (disorder)\14q partial trisomy (disorder)\14q partial proximal trisomy syndrome
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 14 (disorder)\14q partial trisomy (disorder)\14q partial proximal trisomy syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 14\Partial trisomy of chromosome 14 (disorder)\14q partial trisomy (disorder)\14q partial proximal trisomy syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 14 (disorder)\14q partial trisomy (disorder)\14q partial proximal trisomy syndrome

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\14q partial proximal trisomy syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
14q partial proximal trisomy syndrome	Is a	14q partial trisomy (disorder)	true	Inferred relationship	Some
14q partial proximal trisomy syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some
14q partial proximal trisomy syndrome	Occurrence	Congenital	false	Inferred relationship	Some
14q partial proximal trisomy syndrome	Finding site	Chromosome pair 14	false	Inferred relationship	Some	1
14q partial proximal trisomy syndrome	Associated morphology	Trisomy	false	Inferred relationship	Some
14q partial proximal trisomy syndrome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
14q partial proximal trisomy syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
14q partial proximal trisomy syndrome	Finding site	Chromosome pair 14	false	Inferred relationship	Some	1
14q partial proximal trisomy syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
14q partial proximal trisomy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
14q partial proximal trisomy syndrome	Finding site	Chromosome pair 14	false	Inferred relationship	Some	1
14q partial proximal trisomy syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
14q partial proximal trisomy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
14q partial proximal trisomy syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Some	2
14q partial proximal trisomy syndrome	Finding site	Long arm of chromosome	true	Inferred relationship	Some	1
14q partial proximal trisomy syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
14q partial proximal trisomy syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
14q partial proximal trisomy syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
14q partial proximal trisomy syndrome	Finding site	Chromosome pair 14	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
138626011	14q partial proximal trisomy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
825249015	14q partial proximal trisomy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7949331000146119	syndroom van partiële proximale trisomie 14q	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7949341000146110	syndroom van partiële proximale trisomie 14q (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7949401000146115	partiële proximale trisomie van lange arm van chromosoom 14	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7949461000146116	partiële proximale trisomie van chromosoom 14q	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)