XO Syndrome - CISMeF

Preferred Label : XO Syndrome;

NCIt synonyms : Turner Syndrome (XO Syndrome);

NCIt definition : A gonadal dysgenesis syndrome occurring in phenotypic females, characterized by the complete absence of one of the sex chromosomes. Signs and symptoms include short stature and hypogonadism.;

Details

Origin ID

C85210;

UMLS CUI

C0041408;

Currated CISMeF NLP mapping
- Karyotype 45, X [ICD-10 Sub-category]
- Karyotype 45,X [ICD-10 Sub-category (who)]
- Monosomy X [ORDO Disease]
- Monosomy X (disorder) [SNOMED CT concept]
- TURNER'S SYNDROME [WHO-ART Included Term]
- Turner syndrome [DO Concept]
- Turner syndrome [Disease (Nov.)]
- Turner syndrome [ACR pathology]
- Turner syndrome [PASCAL descriptor]
- Turner syndrome [ACR pathology]
- Turner syndrome [ORDO Disease]
- Turner syndrome [ICD-11 Subcategory]
- Turner syndrome (disorder) [SNOMED CT concept]
- Turner's syndrome [MedDRA Preferred Term]
- Turner's syndrome [ICD-10 category]
- Turner's syndrome, unspecified [ICD-10 Sub-category]
- Turners syndrome [ICD-10 category (who)]
- Turners syndrome, unspecified [ICD-10 Sub-category (who)]
- XO genotype [MedDRA LLT]
- turner syndrome [MeSH Descriptor]
- turner syndrome [MedlinePlus Topic]
- turner syndrome [MeSH concept]
- turner syndrome, nos [SNOMED Notion]
Has associated anatomic sites
- Genitourinary System [NCIt concept]
- Gonad [NCIt concept]
- Reproductive System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Karyotype 45, X [ICD-10 Sub-category]
- Karyotype 45, X [ICD-11 Sub-sub category]
- Monosomy X [ORDO Disease]
- TURNER'S SYNDROME [WHO-ART Included Term]
- Turner syndrome [PASCAL descriptor]
- Turner syndrome [ACR pathology]
- Turner syndrome [ACR pathology]
- Turner syndrome [ACR pathology]
- Turner syndrome (disorder) [SNOMED CT concept]
- Turner's syndrome [ICD-10 category]
- Turner's syndrome [MedDRA Preferred Term]
- Turner's syndrome, unspecified [ICD-10 Sub-category]
- Turners syndrome [ICD-10 category (who)]
- Turners syndrome, unspecified [ICD-10 Sub-category (who)]
- XO genotype [MedDRA LLT]
- turner syndrome [MeSH concept]
- turner syndrome [MedlinePlus Topic]
- turner syndrome [MeSH Descriptor]
- turner syndrome, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Karyotype 45, X [ICD-11 Sub-sub category]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Genitourinary System [NCIt concept]
- Gonad [NCIt concept]
- Reproductive System [NCIt concept]
disease_may_have_associated_disease
- Atypical Polypoid Adenomyoma [NCIt concept]
- Cystic Hygroma [NCIt concept]

Keyword's position in hierarchy(ies) :

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