725084009: congenitale aneuploïdie van geslachtschromosoom (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 sex chromosome\Sex chromosome aneuploidy (disorder)

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Sex chromosome aneuploidy (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

3438398016 Sex chromosome aneuploidy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3438399012 Sex chromosome aneuploidy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5182131000146115 congenitale aneuploïdie van geslachtschromosoom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

5182141000146111 congenitale aneuploïdie van geslachtschromosoom (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

5182151000146114 congenitale aneuploïdie van heterochromosoom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6127051000146117 congenitale aneuploïdie van heterosoom nl Synonym (core metadata concept) Active Entire term 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
Sex chromosome aneuploidy (disorder)	Is a	Anomaly of sex chromosome	true	Inferred relationship	Some
Sex chromosome aneuploidy (disorder)	Associated morphology	Aneuploidy	true	Inferred relationship	Some	1
Sex chromosome aneuploidy (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Sex chromosome aneuploidy (disorder)	Finding site	Sex chromosome	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Additional sex chromosome	Is a	True	Sex chromosome aneuploidy (disorder)	Inferred relationship	Some
Family history of sex chromosome aneuploidy (situation)	Associated finding	True	Sex chromosome aneuploidy (disorder)	Inferred relationship	Some	1
49,XYYYY syndrome (disorder)	Is a	True	Sex chromosome aneuploidy (disorder)	Inferred relationship	Some
49,XXXYY syndrome	Is a	True	Sex chromosome aneuploidy (disorder)	Inferred relationship	Some
Double Y syndrome	Is a	True	Sex chromosome aneuploidy (disorder)	Inferred relationship	Some
48,XYYY syndrome (disorder)	Is a	True	Sex chromosome aneuploidy (disorder)	Inferred relationship	Some
Four X syndrome	Is a	True	Sex chromosome aneuploidy (disorder)	Inferred relationship	Some

This concept is not in any reference sets