254277006: Sex chromosome abnormality - female phenotype (disorder)

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

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

\Congenital disease (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

2479641000052117 könskromosomavvikelse, kvinnlig fenotyp sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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	Some
Sex chromosome abnormality - female phenotype	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Sex chromosome abnormality - female phenotype	Occurrence	Congenital	false	Inferred relationship	Some
Sex chromosome abnormality - female phenotype	Finding site	Sex chromosome	false	Inferred relationship	Some	1
Sex chromosome abnormality - female phenotype	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Sex chromosome abnormality - female phenotype	Finding site	Sex chromosome	false	Inferred relationship	Some	1
Sex chromosome abnormality - female phenotype	Associated morphology	kongenital anomali	false	Inferred relationship	Some
Sex chromosome abnormality - female phenotype	Occurrence	Congenital	true	Inferred relationship	Some	1
Sex chromosome abnormality - female phenotype	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Some	1
Sex chromosome abnormality - female phenotype	Finding site	Sex chromosome	true	Inferred relationship	Some	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	Some
Mosaicism - lines with various numbers of X chromosomes	Is a	True	Sex chromosome abnormality - female phenotype	Inferred relationship	Some
Trisomy X syndrome	Is a	True	Sex chromosome abnormality - female phenotype	Inferred relationship	Some
Turner syndrome	Is a	True	Sex chromosome abnormality - female phenotype	Inferred relationship	Some
XY females	Is a	True	Sex chromosome abnormality - female phenotype	Inferred relationship	Some
XY, female phenotype	Is a	True	Sex chromosome abnormality - female phenotype	Inferred relationship	Some
[X]Other specified sex chromosome abnormalities, female phenotype	Is a	False	Sex chromosome abnormality - female phenotype	Inferred relationship	Some

This concept is not in any reference sets