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254282004: Female with more than three X chromosomes (disorder)

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
378516018 Female with more than three X chromosomes en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
645153019 Female with more than three X chromosomes (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5083481000241114 femme avec plus de trois chromosomes X fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Female with more than three X chromosomes Is a Anomaly of chromosome X false Inferred relationship Some
Female with more than three X chromosomes Is a Sex chromosome abnormality - female phenotype true Inferred relationship Some
Female with more than three X chromosomes Associated morphology Alteration of chromosome structure false Inferred relationship Some
Female with more than three X chromosomes Finding site Sex chromosome X false Inferred relationship Some
Female with more than three X chromosomes Occurrence Congenital false Inferred relationship Some
Female with more than three X chromosomes Associated morphology anomalie congénitale false Inferred relationship Some 1
Female with more than three X chromosomes Finding site Sex chromosome false Inferred relationship Some 1
Female with more than three X chromosomes Finding site Sex chromosome false Inferred relationship Some 1
Female with more than three X chromosomes Associated morphology anomalie congénitale false Inferred relationship Some
Female with more than three X chromosomes Occurrence Congenital true Inferred relationship Some 1
Female with more than three X chromosomes Associated morphology Cellular AND/OR subcellular abnormality true Inferred relationship Some 1
Female with more than three X chromosomes Finding site Sex chromosome true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX). Prevalence is unknown but only around 40 cases have been reported in the literature so far. Tetrasomy X is associated with delayed speech, learning difficulties, developmental delay and facial dysmorphism. Although disease severity is variable, the learning difficulties and developmental delay are generally mild to moderate. Commonly associated facial features include hypertelorism, upslanting palpebral fissures, epicanthal folds and a flat nasal bridge. Other anomalies may include dental abnormalities, hypotonia and joint laxity, radioulnar synostosis, heart defects, hip dysplasia, and ovarian dysfunction. An increased susceptibility to infections during childhood has also been reported. Tetrasomy X is generally thought to arise as a result of successive maternal nondisjunction during meiosis. Is a True Female with more than three X chromosomes Inferred relationship Some
Penta X syndrome Is a True Female with more than three X chromosomes Inferred relationship Some

This concept is not in any reference sets

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