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

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Disorder of foetus and/or newborn\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Anomaly of chromosome pair\Anomaly of sex chromosome\Sex chromosome abnormality - female phenotype\Female with more than three X chromosomes

\Chromosomal disorder (disorder)\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Anomaly of chromosome pair\Anomaly of sex chromosome\Sex chromosome abnormality - female phenotype\Female with more than three X chromosomes

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

2235551000005110 Kvinde med mere end tre X-kromosomer da Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Danish module (core metadata concept)

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	kongenit anomali	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	kongenit anomali	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
A sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX). This disorder 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.	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