81438002: Anomaly of chromosome Y (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\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

4656351000241110 anomalie du chromosome Y fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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	anomalie congénitale	false	Inferred relationship	Some	1
Anomaly of chromosome Y	Associated morphology	anomalie congénitale	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
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	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
A genetic male infertility characterized by azoospermia or oligozoospermia due to chromosome Y microdeletion.	Is a	True	Anomaly of chromosome Y	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	Anomaly of chromosome Y	Inferred relationship	Some
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	Anomaly of chromosome Y	Inferred relationship	Some
A rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans. Gender dysphoria and comorbid bipolar disorder have also been observed.	Is a	True	Anomaly of chromosome Y	Inferred relationship	Some
A rare sex-chromosome anomaly characterized by various clinical presentations including normal healthy fertile males, male phenotype with infertility, and males with ambiguous genitalia or incomplete masculinization.	Is a	True	Anomaly of chromosome Y	Inferred relationship	Some
A rare sex-chromosome anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features, and a male phenotype with infertility due to azoospermia.	Is a	True	Anomaly of chromosome Y	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	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