Chromosome Disorder

Preferred Label : Chromosome Disorder;

NCIt synonyms : Chromosome Abnormality Disorder;

NCIt definition : A disorder that results from a chromosomal abnormality.;

Details

Origin ID

C34470;

UMLS CUI

C0008626;

Automatic exact mappings (from CISMeF team)
- Chromosomal disorder [ACR pathology]
- Chromosomal disorders [HPMULTI term]
- chromosomal disorders [EMDN type]
- chromosomal disorders [medical devices type]
CISMeF manual mappings
- Chromosomal disorder (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- CHROMOSOME ABNORMALITY [WHO-ART Included Term]
- CHROMOSOME DISORDER [WHO-ART High Level Term]
- Chromosomal abnormality NOS [MedDRA LLT]
- Chromosomal anomalies [MedDRA LLT]
- Chromosome abnormality [MedDRA LLT]
- Chromosome disorder [MedDRA LLT]
- Conditions due to anomaly of unspecified chromosome [ICD-9 code]
- Congenital disorder due to abnormality of chromosome number OR structure (disorder) [SNOMED CT concept]
- Congenital glaucoma associated with chromosomal abnormalities [ICD-11 More detail]
- Rare chromosomal anomaly [ORDO Disease]
- autosomal disorder [Disease (Nov.)]
- chromosomal disease, nos [SNOMED Notion]
- chromosomal disease, nos [TUV Term]
- chromosome aberrations [MeSH concept]
- chromosome aberrations [MeSH Descriptor]
- chromosome disorder [Disease (Nov.)]
- chromosome disorders [MeSH Descriptor]
- chromosome disorders [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CHROMOSOME ABNORMALITY [WHO-ART Included Term]
- CHROMOSOME DISORDER [WHO-ART High Level Term]
- Chromosomal abnormality NOS [MedDRA LLT]
- Chromosomal abnormality, unspecified [ICD-10 Sub-category]
- Chromosomal abnormality, unspecified [ICD-10 Sub-category (who)]
- Chromosomal anomalies [ICD-9 code]
- Chromosomal anomalies [MedDRA LLT]
- Chromosomal disorder (disorder) [SNOMED CT concept]
- Chromosome abnormality [MedDRA LLT]
- Chromosome disorder [MedDRA LLT]
- Conditions due to anomaly of unspecified chromosome [MedDRA LLT]
- Conditions due to anomaly of unspecified chromosome [ICD-9 code]
- Congenital disorder due to abnormality of chromosome number OR structure (disorder) [SNOMED CT concept]
- Cytogenetic abnormality [MedDRA Preferred Term]
- autosomal disorder [Disease (Nov.)]
- chromosomal disease, nos [SNOMED Notion]
- chromosome disorders [MeSH concept]
- chromosome disorders [MeSH Descriptor]
Validated automatic mappings to BTNT
- chromosome aberration [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

Main resources

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