725084009: Sex chromosome aneuploidy (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Fetal and/or neonatal disorder\Congenital disease\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

7615421000241119 aneuploïdie d'un gonosome fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

7615431000241117 aneuploïdie d'un chromosome sexuel fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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
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.	Is a	True	Sex chromosome aneuploidy (disorder)	Inferred relationship	Some
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.	Is a	True	Sex chromosome aneuploidy (disorder)	Inferred relationship	Some
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.	Is a	True	Sex chromosome aneuploidy (disorder)	Inferred relationship	Some
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.	Is a	True	Sex chromosome aneuploidy (disorder)	Inferred relationship	Some
Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX). Prevalence is unknown but only around 40 cases have been reported in the literature so far. Tetrasomy X is associated with delayed speech, learning difficulties, developmental delay and facial dysmorphism. Although disease severity is variable, the learning difficulties and developmental delay are generally mild to moderate. Commonly associated facial features include hypertelorism, upslanting palpebral fissures, epicanthal folds and a flat nasal bridge. Other anomalies may include dental abnormalities, hypotonia and joint laxity, radioulnar synostosis, heart defects, hip dysplasia, and ovarian dysfunction. An increased susceptibility to infections during childhood has also been reported. Tetrasomy X is generally thought to arise as a result of successive maternal nondisjunction during meiosis.	Is a	True	Sex chromosome aneuploidy (disorder)	Inferred relationship	Some

This concept is not in any reference sets