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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
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 Only initial character case insensitive (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
65086018 XO 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 Only initial character case insensitive (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
65088017 45, X syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
491779015 X0 - Turner's syndrome en Synonym (core metadata concept) Active Entire term case sensitive (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
491781018 Testicular dysplasia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
491782013 Karyotype 45, X en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
491783015 45X0 - 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
491785010 Testicular dysgenesis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
775137014 Turner syndrome (disorder) en Fully specified name Active Only initial character case insensitive (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
955401000195118 sindrome di Turner it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3433601001000115 Turner-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
221781000172111 syndrome de Turner fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
221781000172111 syndrome de Turner fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
955401000195118 sindrome di Turner it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3433601001000115 Turner-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

9 descendants. Search Descendants:

Expanded Value Set

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

This concept is not in any reference sets

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