Karyotype 45, X

ICD-11 code : LD50.00;

Preferred Label : Karyotype 45, X;

ICD-11 definition : A disease affecting females, caused by absence of one of the two X chromosomes. This disease may present with short stature, extra folds of skin on the neck, a low hairline at the back of the neck, puffiness or swelling of the hands and feet, skeletal abnormalities, ovarian hypofunction or premature ovarian failure, kidney problems, or heart defects. Confirmation is through observation of only one X chromosome by karyotyping.;

Details

Origin ID

95979116;

UMLS CUI

C0041408;

Currated CISMeF NLP mapping
- Karyotype 45, X [ICD-10 Sub-category]
- Karyotype 45,X [ICD-10 Sub-category (who)]
ICD-10 Mapping
- Karyotype 45, X [ICD-10 Sub-category]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Karyotype 45, X [ICD-10 Sub-category]
- Monosomy X [ORDO Disease]
- TURNER'S SYNDROME [WHO-ART Included Term]
- Turner Syndrome [NCIt concept]
- Turner syndrome [ACR pathology]
- Turner syndrome [ACR pathology]
- Turner syndrome [ACR pathology]
- Turner syndrome [PASCAL descriptor]
- 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]
- XO Syndrome [NCIt concept]
- XO genotype [MedDRA LLT]
- turner syndrome [MedlinePlus Topic]
- turner syndrome [MeSH Descriptor]
- turner syndrome [MeSH concept]
- turner syndrome, nos [SNOMED Notion]
Validated automatic mappings to NTBT
- Monosomy X [NCIt concept]
- Monosomy X [ORDO Disease]
- Monosomy X (disorder) [SNOMED CT concept]
- TURNER'S SYNDROME [WHO-ART Included Term]
- Turner Syndrome [NCIt concept]
- Turner syndrome [DO Concept]
- Turner syndrome [Disease (Nov.)]
- Turner syndrome [ACR pathology]
- Turner syndrome [PASCAL descriptor]
- Turner syndrome [ORDO Disease]
- Turner syndrome [ACR pathology]
- Turner syndrome (disorder) [SNOMED CT concept]
- Turner's syndrome [MedDRA Preferred Term]
- Turners syndrome [ICD-10 category (who)]
- Turners syndrome, unspecified [ICD-10 Sub-category (who)]
- XO Syndrome [NCIt concept]
- XO genotype [MedDRA LLT]
- turner syndrome [MeSH Descriptor]
- turner syndrome [MedlinePlus Topic]
- turner syndrome [MeSH concept]
- turner syndrome, nos [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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