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38804009: Turner syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
65082016 Turner syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
65084015 Pterygolymphangiectasia syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
65085019 Bonnevie-Ullrich syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
65087010 Gonadal dysgenesis syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
491780017 Turner's syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
491784014 TS - Turner's syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
775137014 Turner syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core 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 Existential restriction modifier
Turner syndrome Is a Anomaly of chromosome X true Inferred relationship Existential restriction modifier
Turner syndrome Is a Congenital anomaly of perineum false Inferred relationship Existential restriction modifier
Turner syndrome Is a Disorder of the genitourinary system false Inferred relationship Existential restriction modifier
Turner syndrome Is a Disorder of reproductive system false Inferred relationship Existential restriction modifier
Turner syndrome Finding site Testis structure false Inferred relationship Existential restriction modifier
Turner syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier
Turner syndrome Associated morphology Alteration of chromosome structure false Inferred relationship Existential restriction modifier
Turner syndrome Finding site Sex chromosome X false Inferred relationship Existential restriction modifier 1
Turner syndrome Is a Disorder of male genital organ false Inferred relationship Existential restriction modifier
Turner syndrome Is a Disorder of testis false Inferred relationship Existential restriction modifier
Turner syndrome Is a Disorder of body cavity false Inferred relationship Existential restriction modifier
Turner syndrome Is a Disorder of female reproductive system false Inferred relationship Existential restriction modifier
Turner syndrome Is a Disorder of abdomen false Inferred relationship Existential restriction modifier
Turner syndrome Finding site Ovarian structure false Inferred relationship Existential restriction modifier
Turner syndrome Finding site Sex chromosome X false Inferred relationship Existential restriction modifier 2
Turner syndrome Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 2
Turner syndrome Associated morphology Chromosomal morphology false Inferred relationship Existential restriction modifier 1
Turner syndrome Finding site Sex chromosome X false Inferred relationship Existential restriction modifier 1
Turner syndrome Finding site Sex chromosome X false Inferred relationship Existential restriction modifier 2
Turner syndrome Finding site Sex chromosome X false Inferred relationship Existential restriction modifier 2
Turner syndrome Finding site Sex chromosome X false Inferred relationship Existential restriction modifier 1
Turner syndrome Finding site Sex chromosome X false Inferred relationship Existential restriction modifier 2
Turner syndrome Finding site Sex chromosome X false Inferred relationship Existential restriction modifier 1
Turner syndrome Finding site Sex chromosome X false Inferred relationship Existential restriction modifier 1
Turner syndrome Finding site Sex chromosome X false Inferred relationship Existential restriction modifier 2
Turner syndrome Finding site Sex chromosome X false Inferred relationship Existential restriction modifier 1
Turner syndrome Finding site Sex chromosome X false Inferred relationship Existential restriction modifier 2
Turner syndrome Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier
Turner syndrome Associated morphology Chromosomal morphology false Inferred relationship Existential restriction modifier
Turner syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 1
Turner syndrome Associated morphology Cellular AND/OR subcellular abnormality false Inferred relationship Existential restriction modifier 1
Turner syndrome Finding site Sex chromosome X false Inferred relationship Existential restriction modifier 1
Turner syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Turner syndrome Finding site Sex chromosome X true Inferred relationship Existential restriction modifier 2
Turner syndrome Associated morphology Chromosomal morphology true Inferred relationship Existential restriction modifier 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Karyotype 46, X iso (Xq) Is a True Turner syndrome Inferred relationship Existential restriction modifier
Karyotype 46, X with abnormal sex chromosome except iso (Xq) Is a True Turner syndrome Inferred relationship Existential restriction modifier
Mosaicism 45, X / other cell line with abnormal sex chromosome Is a False Turner syndrome Inferred relationship Existential restriction modifier
Turner's phenotype - ring chromosome karyotype Is a True Turner syndrome Inferred relationship Existential restriction modifier
Mosaicism 45, X; 46, XX Is a False Turner syndrome Inferred relationship Existential restriction modifier
Mixed gonadal dysgenesis Is a False Turner syndrome Inferred relationship Existential restriction modifier
Turner's phenotype, karyotype normal Is a True Turner syndrome Inferred relationship Existential restriction modifier
Turner's phenotype, mosaicism 45, X; 46, XX or 45, X; 46, XY Is a False Turner syndrome Inferred relationship Existential restriction modifier
Turner's phenotype, partial X deletion karyotype Is a True Turner syndrome Inferred relationship Existential restriction modifier
[X]Other variants of Turner's syndrome Is a False Turner syndrome Inferred relationship Existential restriction modifier
Ovarian dwarfism NEC Is a False Turner syndrome Inferred relationship Existential restriction modifier
Bonnevie-Ullrich syndrome NOS Is a False Turner syndrome Inferred relationship Existential restriction modifier
Turner's phenotype, other variant karyotypes Is a False Turner syndrome Inferred relationship Existential restriction modifier
Turner's syndrome NOS Is a False Turner syndrome Inferred relationship Existential restriction modifier
Fetus with Turner syndrome Is a False Turner syndrome Inferred relationship Existential restriction modifier
Monosomy X Is a True Turner syndrome Inferred relationship Existential restriction modifier
Mosaic Turner syndrome Is a True Turner syndrome Inferred relationship Existential restriction modifier
Family history of Turner syndrome Associated finding True Turner syndrome Inferred relationship Existential restriction modifier 1
[X]Other variants of Turner's syndrome Is a False Turner syndrome Inferred relationship Existential restriction modifier
Turner's phenotype, other variant karyotypes Is a False Turner syndrome Inferred relationship Existential restriction modifier
Turner's syndrome NOS Is a False Turner syndrome Inferred relationship Existential restriction modifier
Ovarian dwarfism NEC Is a False Turner syndrome Inferred relationship Existential restriction modifier
Bonnevie-Ullrich syndrome NOS Is a False Turner syndrome Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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