80056000: Aneuploidy (morphologic abnormality)

SNOMED CT Concept\Body structure (body structure)\Morphologically altered structure\Morphologically abnormal structure\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

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

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
A rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set lop ears, and micrognathia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavioral problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults.	Associated morphology	True	Aneuploidy	Inferred relationship	Some	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	Some	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	Some	1
A sex chromosome aneuploidy where males receive an additional Y chromosome, and with clinical characteristics of tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder.	Associated morphology	True	Aneuploidy	Inferred relationship	Some	1
A rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar synostosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility are frequently reported in adult males.	Associated morphology	True	Aneuploidy	Inferred relationship	Some	1
Tetrasomy (morphologic abnormality)	Is a	True	Aneuploidy	Inferred relationship	Some

This concept is not in any reference sets