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726359007: partiële trisomie van korte arm van chromosoom 19 (aandoening)

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

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

\Anomaly of chromosome pair\Anomaly of chromosome pair 19\Partial trisomy of chromosome 19\Partial trisomy of short arm of chromosome 19 (disorder)

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 19\Partial trisomy of short arm of chromosome 19 (disorder)

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 19\Partial trisomy of short arm of chromosome 19 (disorder)
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 19\Partial trisomy of short arm of chromosome 19 (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 19\Partial trisomy of chromosome 19\Partial trisomy of short arm of chromosome 19 (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 19\Partial trisomy of short arm of chromosome 19 (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Partial trisomy of short arm of chromosome 19 (disorder)	Is a	Partial trisomy of chromosome 19	true	Inferred relationship	Some
Partial trisomy of short arm of chromosome 19 (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	2
Partial trisomy of short arm of chromosome 19 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Partial trisomy of short arm of chromosome 19 (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	3
Partial trisomy of short arm of chromosome 19 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Partial trisomy of short arm of chromosome 19 (disorder)	Finding site	Short arm of chromosome	true	Inferred relationship	Some	2
Partial trisomy of short arm of chromosome 19 (disorder)	Finding site	Chromosome pair 19	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
19p13.3 microduplication syndrome (disorder)	Is a	True	Partial trisomy of short arm of chromosome 19 (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3498324012	Partial trisomy of short arm of chromosome 19 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498325013	Partial trisomy of short arm of chromosome 19	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498326014	Duplication of short arm of chromosome 19	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7992211000146118	partiële trisomie van korte arm van chromosoom 19	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7992241000146117	syndroom van partiële trisomie 19p	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7992251000146119	partiële trisomie van korte arm van chromosoom 19 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8038041000146119	partiële duplicatie 19p	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8038051000146116	partiële trisomie 19p	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)