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81438002: Anomaly of chromosome Y (disorder)

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
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
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

11 descendants. Search Descendants:

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 Existential restriction modifier (core metadata concept)
Anomaly of chromosome Y Finding site Sex chromosome Y false Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome Y Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome Y Associated morphology Alteration of chromosome structure false Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome Y Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome Y Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome Y Finding site Sex chromosome Y false Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome Y Is a Congenital chromosomal disease false Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome Y Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome Y Is a Anomaly of sex chromosome true Inferred relationship Existential restriction modifier (core metadata concept)
Anomaly of chromosome Y Associated morphology Cellular AND/OR subcellular abnormality true Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome Y Finding site Sex chromosome Y true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Double Y syndrome Is a True Anomaly of chromosome Y Inferred relationship Existential restriction modifier (core metadata concept)
XY females Is a True Anomaly of chromosome Y Inferred relationship Existential restriction modifier (core metadata concept)
Poly Y syndrome Is a True Anomaly of chromosome Y Inferred relationship Existential restriction modifier (core metadata concept)
Partial chromosome Y deletion (disorder) Is a True Anomaly of chromosome Y Inferred relationship Existential restriction modifier (core metadata concept)
48,XYYY syndrome (disorder) Is a True Anomaly of chromosome Y Inferred relationship Existential restriction modifier (core metadata concept)
49,XYYYY syndrome Is a True Anomaly of chromosome Y Inferred relationship Existential restriction modifier (core metadata concept)
Ring chromosome Y syndrome (disorder) Is a True Anomaly of chromosome Y Inferred relationship Existential restriction modifier (core metadata concept)
Isochromosomy Yp (disorder) Is a True Anomaly of chromosome Y Inferred relationship Existential restriction modifier (core metadata concept)
Isochromosomy Yq (disorder) Is a True Anomaly of chromosome Y 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 Anomaly of chromosome Y Inferred relationship Existential restriction modifier (core metadata concept)
Mixed gonadal dysgenesis Is a True Anomaly of chromosome Y Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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