38804009: Turner syndrome (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)\Sex chromosome abnormality - female phenotype\Turner syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2024. Module: IPS terminology module (core metadata concept)

Descriptions:

Id Description Lang Type Status Case? Module

65082016 Turner syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) IPS terminology module (core metadata concept)

65084015 Pterygolymphangiectasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

65085019 Bonnevie-Ullrich syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) IPS terminology module (core metadata concept)

65087010 Gonadal dysgenesis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

491780017 Turner's syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) IPS terminology module (core metadata concept)

491784014 TS - Turner's syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) IPS terminology module (core metadata concept)

775137014 Turner syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) IPS terminology module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Turner syndrome	Is a	Sex chromosome abnormality - female phenotype	true	Inferred relationship	Some
Turner syndrome	Associated morphology	Chromosomal morphology	true	Inferred relationship	Some	1
Turner syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Turner syndrome	Finding site	Sex chromosome X	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

International Patient Summary