5421003: Sex chromosome Y (cell structure)

SNOMED CT Concept\Body structure (body structure)\Anatomical or acquired body structure (body structure)\Anatomical structure\Cell\Subcellular structure\Chromosome structure\...

\Sex chromosome structure\Sex chromosome\Sex chromosome Y

\Chromosome\Sex chromosome\Sex chromosome Y

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

10060012 Sex chromosome Y en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

1203628016 Sex chromosome Y (cell structure) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Sex chromosome Y	Is a	Sex chromosome	true	Inferred relationship	Some
Sex chromosome Y	partie de	Nucleus	false	Additional relationship	Some

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.	Finding site	False	Sex chromosome Y	Inferred relationship	Some	1
Anomaly of chromosome Y	Finding site	False	Sex chromosome Y	Inferred relationship	Some	1
XY females	Finding site	False	Sex chromosome Y	Inferred relationship	Some	1
Poly Y syndrome (disorder)	Finding site	False	Sex chromosome Y	Inferred relationship	Some	1
Poly Y syndrome (disorder)	Finding site	False	Sex chromosome Y	Inferred relationship	Some	1
XY females	Finding site	False	Sex chromosome Y	Inferred relationship	Some	1
Anomaly of chromosome Y	Finding site	False	Sex chromosome Y	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.	Finding site	False	Sex chromosome Y	Inferred relationship	Some	1
Anomaly of chromosome Y	Finding site	True	Sex chromosome Y	Inferred relationship	Some	1
Poly Y syndrome (disorder)	Finding site	True	Sex chromosome Y	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.	Finding site	True	Sex chromosome Y	Inferred relationship	Some	1
XY females	Finding site	True	Sex chromosome Y	Inferred relationship	Some	1
A genetic male infertility characterized by azoospermia or oligozoospermia due to chromosome Y microdeletion.	Finding site	True	Sex chromosome Y	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.	Finding site	True	Sex chromosome Y	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.	Finding site	True	Sex chromosome Y	Inferred relationship	Some	1
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.	Finding site	True	Sex chromosome Y	Inferred relationship	Some	1
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.	Finding site	True	Sex chromosome Y	Inferred relationship	Some	1
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.	Finding site	True	Sex chromosome Y	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.	Finding site	False	Sex chromosome Y	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.	Finding site	True	Sex chromosome Y	Inferred relationship	Some	1
Mixed gonadal dysgenesis	Finding site	True	Sex chromosome Y	Inferred relationship	Some	1

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
10060012	Sex chromosome Y	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1203628016	Sex chromosome Y (cell structure)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core