36114005: Sex phenotype-karyotype dissociation syndrome (disorder)

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

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Sex phenotype-karyotype dissociation syndrome

\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Sex phenotype-karyotype dissociation syndrome

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

60266014 Sex phenotype-karyotype dissociation syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

767829016 Sex phenotype-karyotype dissociation syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5970431000172112 syndrome de dissociation du phénotype et du caryotype sexuels fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4632571000172119 syndroom van dissociatie tussen fenotype en karyotype betreffende geslacht nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
XX males	Is a	True	Sex phenotype-karyotype dissociation syndrome	Inferred relationship	Some
XY females	Is a	True	Sex phenotype-karyotype dissociation syndrome	Inferred relationship	Some

This concept is not in any reference sets