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38804009: Turner syndrome (disorder)

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
65082016 Turner syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
65084015 Pterygolymphangiectasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
65085019 Bonnevie-Ullrich syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
65087010 Gonadal dysgenesis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
491780017 Turner's syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
491784014 TS - Turner's syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
775137014 Turner syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
221781000172111 syndrome de Turner fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

10 descendants. Search Descendants:

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 Is a Anomaly of chromosome X true Inferred relationship Some
Turner syndrome Is a Congenital anomaly of perineum false Inferred relationship Some
Turner syndrome Is a Disorder of the genitourinary system (disorder) false Inferred relationship Some
Turner syndrome Is a Disorder of reproductive system false Inferred relationship Some
Turner syndrome Finding site Testis structure false Inferred relationship Some
Turner syndrome Occurrence Congenital false Inferred relationship Some
Turner syndrome Associated morphology Alteration of chromosome structure false Inferred relationship Some
Turner syndrome Finding site Sex chromosome X false Inferred relationship Some 1
Turner syndrome Is a Disorder of male genital organ (disorder) false Inferred relationship Some
Turner syndrome Is a Disorder of testis false Inferred relationship Some
Turner syndrome Is a Disorder of body cavity (disorder) false Inferred relationship Some
Turner syndrome Is a Disorder of female reproductive system (disorder) false Inferred relationship Some
Turner syndrome Is a Disorder of abdomen (disorder) false Inferred relationship Some
Turner syndrome Finding site Ovarian structure false Inferred relationship Some
Turner syndrome Finding site Sex chromosome X false Inferred relationship Some 2
Turner syndrome Associated morphology anomalie congénitale false Inferred relationship Some 2
Turner syndrome Associated morphology Chromosomal morphology false Inferred relationship Some 1
Turner syndrome Finding site Sex chromosome X false Inferred relationship Some 1
Turner syndrome Finding site Sex chromosome X false Inferred relationship Some 2
Turner syndrome Finding site Sex chromosome X false Inferred relationship Some 2
Turner syndrome Finding site Sex chromosome X false Inferred relationship Some 1
Turner syndrome Finding site Sex chromosome X false Inferred relationship Some 2
Turner syndrome Finding site Sex chromosome X false Inferred relationship Some 1
Turner syndrome Finding site Sex chromosome X false Inferred relationship Some 1
Turner syndrome Finding site Sex chromosome X false Inferred relationship Some 2
Turner syndrome Finding site Sex chromosome X false Inferred relationship Some 1
Turner syndrome Finding site Sex chromosome X false Inferred relationship Some 2
Turner syndrome Associated morphology anomalie congénitale false Inferred relationship Some
Turner syndrome Associated morphology Chromosomal morphology false Inferred relationship Some
Turner syndrome Occurrence Congenital false Inferred relationship Some 1
Turner syndrome Associated morphology Cellular AND/OR subcellular abnormality false Inferred relationship Some 1
Turner syndrome Finding site Sex chromosome X false Inferred relationship Some 1
Turner syndrome Occurrence Congenital true Inferred relationship Some 2
Turner syndrome Finding site Sex chromosome X true Inferred relationship Some 2
Turner syndrome Associated morphology Chromosomal morphology true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Karyotype 46, X iso (Xq) Is a True Turner syndrome Inferred relationship Some
Karyotype 46, X with abnormal sex chromosome except iso (Xq) Is a True Turner syndrome Inferred relationship Some
Mosaicism 45, X / other cell line with abnormal sex chromosome Is a False Turner syndrome Inferred relationship Some
Turner's phenotype - ring chromosome karyotype Is a True Turner syndrome Inferred relationship Some
Mosaicism 45, X; 46, XX Is a False Turner syndrome Inferred relationship Some
Mixed gonadal dysgenesis Is a False Turner syndrome Inferred relationship Some
Turner's phenotype, karyotype normal (disorder) Is a True Turner syndrome Inferred relationship Some
Turner's phenotype, mosaicism 45, X; 46, XX or 45, X; 46, XY Is a False Turner syndrome Inferred relationship Some
Turner's phenotype, partial X deletion karyotype Is a True Turner syndrome Inferred relationship Some
[X]Other variants of Turner's syndrome Is a False Turner syndrome Inferred relationship Some
Ovarian dwarfism NEC Is a False Turner syndrome Inferred relationship Some
Bonnevie-Ullrich syndrome NOS Is a False Turner syndrome Inferred relationship Some
Turner's phenotype, other variant karyotypes Is a False Turner syndrome Inferred relationship Some
Turner's syndrome NOS Is a False Turner syndrome Inferred relationship Some
Fetus with Turner syndrome Is a False Turner syndrome Inferred relationship Some
Monosomy X Is a True Turner syndrome Inferred relationship Some
Mosaic Turner syndrome (disorder) Is a True Turner syndrome Inferred relationship Some
Family history of Turner syndrome (situation) Associated finding True Turner syndrome Inferred relationship Some 1

This concept is not in any reference sets

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