81438002: congenitale anomalie van Y-chromosoom (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\Anomaly of chromosome Y

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

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

135105014 Anomaly of chromosome Y en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

822709015 Anomaly of chromosome Y (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

6002571000146118 congenitale anomalie van Y-chromosoom nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6002581000146116 congenitale anomalie van Y-chromosoom (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6002591000146119 aangeboren afwijking van geslachtschromosoom Y 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
Anomaly of chromosome Y	Is a	Anomaly of sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome Y	Finding site	Sex chromosome Y	false	Inferred relationship	Some	1
Anomaly of chromosome Y	Occurrence	Congenital	false	Inferred relationship	Some
Anomaly of chromosome Y	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Anomaly of chromosome Y	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Anomaly of chromosome Y	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
Anomaly of chromosome Y	Finding site	Sex chromosome Y	false	Inferred relationship	Some	1
Anomaly of chromosome Y	Is a	Congenital chromosomal disease	false	Inferred relationship	Some
Anomaly of chromosome Y	Occurrence	Congenital	true	Inferred relationship	Some	1
Anomaly of chromosome Y	Is a	Anomaly of sex chromosome	true	Inferred relationship	Some
Anomaly of chromosome Y	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Some	1
Anomaly of chromosome Y	Finding site	Sex chromosome Y	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Double Y syndrome	Is a	True	Anomaly of chromosome Y	Inferred relationship	Some
XY females	Is a	True	Anomaly of chromosome Y	Inferred relationship	Some
Poly Y syndrome (disorder)	Is a	True	Anomaly of chromosome Y	Inferred relationship	Some
Partial chromosome Y deletion (disorder)	Is a	True	Anomaly of chromosome Y	Inferred relationship	Some
48,XYYY syndrome (disorder)	Is a	True	Anomaly of chromosome Y	Inferred relationship	Some
49,XYYYY syndrome (disorder)	Is a	True	Anomaly of chromosome Y	Inferred relationship	Some
Ring chromosome Y syndrome (disorder)	Is a	True	Anomaly of chromosome Y	Inferred relationship	Some
Isochromosomy Yp	Is a	True	Anomaly of chromosome Y	Inferred relationship	Some
Isochromosomy Yq (disorder)	Is a	True	Anomaly of chromosome Y	Inferred relationship	Some
49,XXXYY syndrome	Is a	True	Anomaly of chromosome Y	Inferred relationship	Some
Mixed gonadal dysgenesis	Is a	True	Anomaly of chromosome Y	Inferred relationship	Some

This concept is not in any reference sets