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725084009: 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
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

6 descendants. Search Descendants:

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 Existential restriction modifier (core metadata concept)
Sex chromosome aneuploidy (disorder) Associated morphology Aneuploidy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Sex chromosome aneuploidy (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Sex chromosome aneuploidy (disorder) Finding site Sex chromosome true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Additional sex chromosome (disorder) Is a True Sex chromosome aneuploidy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Family history of sex chromosome aneuploidy (situation) Associated finding True Sex chromosome aneuploidy (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 1
49,XYYYY syndrome Is a True Sex chromosome aneuploidy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
Double Y syndrome Is a True Sex chromosome aneuploidy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
48,XYYY syndrome (disorder) Is a True Sex chromosome aneuploidy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Four X syndrome Is a True Sex chromosome aneuploidy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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