80056000: aneuploïdie (afwijkende morfologie)

SNOMED CT Concept\Body structure\Morphologically altered structure\Morphologically abnormal structure (morphologic abnormality)\Cellular AND/OR subcellular abnormality\Chromosomal morphology\Karyotype morphology\Aneuploidy

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

132816014 Aneuploidy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
132817017 Alteration of chromosome number, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
132818010 Aneuploidy, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
132819019 Alteration of chromosome number en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
821174016 Aneuploidy (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1070231000146112 aneuploïdie (afwijkende morfologie) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
1070241000146116 aneuploïdie 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
Aneuploidy	Is a	Karyotype morphology	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal aneuploidy (disorder)	Associated morphology	False	Aneuploidy	Inferred relationship	Some	1
Autosomal aneuploidy (disorder)	Associated morphology	True	Aneuploidy	Inferred relationship	Some	1
Additional sex chromosome	Associated morphology	True	Aneuploidy	Inferred relationship	Some	3
Sex chromosome aneuploidy (disorder)	Associated morphology	True	Aneuploidy	Inferred relationship	Some	1
49,XYYYY syndrome (disorder)	Associated morphology	True	Aneuploidy	Inferred relationship	Some	1
49,XXXYY syndrome	Associated morphology	True	Aneuploidy	Inferred relationship	Some	2
49,XXXYY syndrome	Associated morphology	True	Aneuploidy	Inferred relationship	Some	1
Double Y syndrome	Associated morphology	True	Aneuploidy	Inferred relationship	Some	1
48,XYYY syndrome (disorder)	Associated morphology	True	Aneuploidy	Inferred relationship	Some	1
Tetrasomy	Is a	True	Aneuploidy	Inferred relationship	Some

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)