80056000: Aneuploidy (morphologic abnormality)

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

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

132816014 Aneuploidy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

132816014 Aneuploidy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

132819019 Alteration of chromosome number en Synonym (core metadata concept) Active 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 Only initial character 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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Aneuploidy	Is a	Karyotype morphology	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal aneuploidy	Associated morphology	False	Aneuploidy	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal aneuploidy	Associated morphology	True	Aneuploidy	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Additional sex chromosome (disorder)	Associated morphology	True	Aneuploidy	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Sex chromosome aneuploidy (disorder)	Associated morphology	True	Aneuploidy	Inferred relationship	Existential restriction modifier (core metadata concept)	1
49,XYYYY syndrome	Associated morphology	True	Aneuploidy	Inferred relationship	Existential restriction modifier (core metadata concept)	1
49,XXXYY syndrome is a rare gonosome anomaly syndrome characterized by a eunuchoid habitus with gynecoid fat distribution and shape, normal to tall stature, moderate to severe intellectual disability, distinctive facial features (e.g. prominent forehead, epicanthic folds, broad nasal bridge, prognathism), gynecomastia, hypogonadism, cryptorchidism, small penis and behavioral abnormalities (including solitary, passive disposition but prone to aggressive outbursts, autistic). Skeletal malformations, such as delayed bone age, fifth finger clinodactyly, elbow malformations and slow molar development, may also be associated.	Associated morphology	True	Aneuploidy	Inferred relationship	Existential restriction modifier (core metadata concept)	2
49,XXXYY syndrome is a rare gonosome anomaly syndrome characterized by a eunuchoid habitus with gynecoid fat distribution and shape, normal to tall stature, moderate to severe intellectual disability, distinctive facial features (e.g. prominent forehead, epicanthic folds, broad nasal bridge, prognathism), gynecomastia, hypogonadism, cryptorchidism, small penis and behavioral abnormalities (including solitary, passive disposition but prone to aggressive outbursts, autistic). Skeletal malformations, such as delayed bone age, fifth finger clinodactyly, elbow malformations and slow molar development, may also be associated.	Associated morphology	True	Aneuploidy	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Double Y syndrome	Associated morphology	True	Aneuploidy	Inferred relationship	Existential restriction modifier (core metadata concept)	1
48,XYYY syndrome (disorder)	Associated morphology	True	Aneuploidy	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Tetrasomy	Is a	True	Aneuploidy	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets