254277006: Sex chromosome abnormality - female phenotype (disorder)

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

\Disorder of foetus and/or newborn\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Sex chromosome abnormality - female phenotype

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Sex chromosome abnormality - female phenotype

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

378511011 Sex chromosome abnormality - female phenotype en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

645147019 Sex chromosome abnormality - female phenotype (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

378511011 Sex chromosome abnormality - female phenotype en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

378511011 Sex chromosome abnormality - female phenotype en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

645147019 Sex chromosome abnormality - female phenotype (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

645147019 Sex chromosome abnormality - female phenotype (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5083421000241113 anomalie des chromosomes sexuels - phénotype féminin fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5083421000241113 anomalie des chromosomes sexuels - phénotype féminin fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Sex chromosome abnormality - female phenotype	Is a	Anomaly of sex chromosome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Sex chromosome abnormality - female phenotype	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Sex chromosome abnormality - female phenotype	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Sex chromosome abnormality - female phenotype	Finding site	Sex chromosome	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Sex chromosome abnormality - female phenotype	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Sex chromosome abnormality - female phenotype	Finding site	Sex chromosome	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Sex chromosome abnormality - female phenotype	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Sex chromosome abnormality - female phenotype	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Sex chromosome abnormality - female phenotype	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Sex chromosome abnormality - female phenotype	Finding site	Sex chromosome	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Female with more than three X chromosomes (disorder)	Is a	True	Sex chromosome abnormality - female phenotype	Inferred relationship	Existential restriction modifier (core metadata concept)
Mosaicism - lines with various numbers of X chromosomes	Is a	True	Sex chromosome abnormality - female phenotype	Inferred relationship	Existential restriction modifier (core metadata concept)
Trisomy X syndrome	Is a	True	Sex chromosome abnormality - female phenotype	Inferred relationship	Existential restriction modifier (core metadata concept)
Turner syndrome (disorder)	Is a	True	Sex chromosome abnormality - female phenotype	Inferred relationship	Existential restriction modifier (core metadata concept)
XY females	Is a	True	Sex chromosome abnormality - female phenotype	Inferred relationship	Existential restriction modifier (core metadata concept)
XY, female phenotype	Is a	True	Sex chromosome abnormality - female phenotype	Inferred relationship	Existential restriction modifier (core metadata concept)
[X]Other specified sex chromosome abnormalities, female phenotype	Is a	False	Sex chromosome abnormality - female phenotype	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets