FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

5421003: Sex chromosome Y (cell structure)

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
10060012 Sex chromosome Y en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
792417019 Sex chromosome Y (body structure) en Fully specified name 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

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Sex chromosome Y Is a Sex chromosome true Inferred relationship Existential restriction modifier (core metadata concept)
Sex chromosome Y partie de Nucleus false Additional relationship (core metadata concept) Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Double Y syndrome Finding site False Sex chromosome Y Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome Y Finding site False Sex chromosome Y Inferred relationship Existential restriction modifier (core metadata concept) 1
XY females Finding site False Sex chromosome Y Inferred relationship Existential restriction modifier (core metadata concept) 1
Poly Y syndrome Finding site False Sex chromosome Y Inferred relationship Existential restriction modifier (core metadata concept) 1
Poly Y syndrome Finding site False Sex chromosome Y Inferred relationship Existential restriction modifier (core metadata concept) 1
XY females Finding site False Sex chromosome Y Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome Y Finding site False Sex chromosome Y Inferred relationship Existential restriction modifier (core metadata concept) 1
Double Y syndrome Finding site False Sex chromosome Y Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome Y Finding site True Sex chromosome Y Inferred relationship Existential restriction modifier (core metadata concept) 1
Poly Y syndrome Finding site True Sex chromosome Y Inferred relationship Existential restriction modifier (core metadata concept) 1
Double Y syndrome Finding site True Sex chromosome Y Inferred relationship Existential restriction modifier (core metadata concept) 1
XY females Finding site True Sex chromosome Y Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial chromosome Y deletion (disorder) Finding site True Sex chromosome Y Inferred relationship Existential restriction modifier (core metadata concept) 1
48,XYYY syndrome (disorder) Finding site True Sex chromosome Y Inferred relationship Existential restriction modifier (core metadata concept) 1
49,XYYYY syndrome Finding site True Sex chromosome Y Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome Y syndrome (disorder) Finding site True Sex chromosome Y Inferred relationship Existential restriction modifier (core metadata concept) 1
Isochromosomy Yp (disorder) Finding site True Sex chromosome Y Inferred relationship Existential restriction modifier (core metadata concept) 1
Isochromosomy Yq (disorder) Finding site True Sex chromosome Y 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. Finding site False Sex chromosome Y 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. Finding site True Sex chromosome Y Inferred relationship Existential restriction modifier (core metadata concept) 1
Mixed gonadal dysgenesis Finding site True Sex chromosome Y Inferred relationship Existential restriction modifier (core metadata concept) 1

This concept is not in any reference sets

Back to Start