Monosomy X - CISMeF

Preferred Label : Monosomy X;

NCIt definition : A chromosomal abnormality consisting of the presence of one copy of the X chromosome and the complete absence of a second sex chromosome (X or Y) in somatic cells.;

NCI Metathesaurus CUI : CL550569;

Details

Origin ID

C36630;

UMLS CUI

C3888138;

Automatic exact mappings (from CISMeF team)
- Monosomy X (morphologic abnormality) [SNOMED CT concept]
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 [Disease (Nov.)]
- Turner syndrome [DO Concept]
- Turner syndrome [ACR pathology]
- Turner syndrome [PASCAL descriptor]
- Turner syndrome [ACR pathology]
- Turner syndrome [ICD-11 Subcategory]
- Turner syndrome [ORDO Disease]
- 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 concept]
- turner syndrome [MedlinePlus Topic]
- turner syndrome [MeSH Descriptor]
- turner syndrome, nos [SNOMED Notion]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- Monosomy X (morphologic abnormality) [SNOMED CT concept]
Validated automatic mappings to BTNT
- Karyotype 45, X [ICD-11 Sub-sub category]
cytogenetic_abnormality_involves_chromosome
- Human Chromosome X [NCIt concept]
is_molecular_abnormality_of_disease
- Bonnevie-Ullrich Syndrome [NCIt concept]
may_be_cytogenetic_abnormality_of_disease
- Sporadic Breast Carcinoma [NCIt concept]

Keyword's position in hierarchy(ies) :

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