8234004: XY females (disorder)

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

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\...

\Sex chromosome abnormality - female phenotype\XY females

\Anomaly of chromosome Y\XY females

\Sex phenotype-karyotype dissociation syndrome\XY females

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\...

\Sex chromosome abnormality - female phenotype\XY females

\Anomaly of chromosome Y\XY females

\Sex phenotype-karyotype dissociation syndrome\XY females

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

14590019 XY females en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

505031015 Female with 46 XY karyotype en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

823743016 XY females (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
XY females	Is a	Sex phenotype-karyotype dissociation syndrome	true	Inferred relationship	Some
XY females	Is a	Anomaly of chromosome Y	true	Inferred relationship	Some
XY females	Is a	Sex chromosome abnormality - female phenotype	true	Inferred relationship	Some
XY females	Finding site	Sex chromosome Y	false	Inferred relationship	Some	1
XY females	Occurrence	Congenital	false	Inferred relationship	Some
XY females	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
XY females	Finding site	Female structure	false	Inferred relationship	Some
XY females	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
XY females	Finding site	Sex chromosome Y	false	Inferred relationship	Some	1
XY females	Associated morphology	Congenital anomaly	false	Inferred relationship	Some
XY females	Occurrence	Congenital	true	Inferred relationship	Some	1
XY females	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Some	1
XY females	Finding site	Sex chromosome Y	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets