Abetalipoproteinemia

Preferred Label : Abetalipoproteinemia;

NCIt definition : An autosomal recessive disorder characterized by defective absorption of dietary fat, cholesterol and fat-soluble vitamins. It results in multiple vitamin deficiencies. Signs and symptoms include failure to thrive, diarrhea, steatorrhea, acanthocytosis and ataxia.;

Details

Origin ID

C84525;

UMLS CUI

C0000744;

Automatic exact mappings (from CISMeF team)
- Lipoprotein deficiency [ICD-10 Sub-category (who)]
- Lipoprotein deficiency [ICD-10 Sub-category]
Currated CISMeF NLP mapping
- Abetalipoproteinaemia [ICD-11 More detail]
- Abetalipoproteinaemia [MedDRA Preferred Term]
- Abetalipoproteinemia [PASCAL descriptor]
- Abetalipoproteinemia [MedDRA LLT]
- Abetalipoproteinemia [HPO term]
- Abetalipoproteinemia [OMIM Phenotype]
- Abetalipoproteinemia [ORDO Disease]
- Abetalipoproteinemia (disorder) [SNOMED CT concept]
- Acanthocytosis [HPO term]
- abetalipoproteinemia [DO Concept]
- abetalipoproteinemia [Disease (Nov.)]
- abetalipoproteinemia [MeSH Descriptor]
- abetalipoproteinemia [MeSH concept]
- abetalipoproteinemia [SNOMED Notion]
DO Cross reference
- abetalipoproteinemia [DO Concept]
False automatic mappings
- Acanthocytosis [MedDRA LLT]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Abetalipoproteinaemia [ICD-11 More detail]
- Abetalipoproteinaemia [MedDRA Preferred Term]
- Abetalipoproteinemia [ORDO Disease]
- Abetalipoproteinemia [OMIM Phenotype]
- Abetalipoproteinemia [HPO term]
- Abetalipoproteinemia [MedDRA LLT]
- Abetalipoproteinemia (disorder) [SNOMED CT concept]
- abetalipoproteinemia [DO Concept]
- abetalipoproteinemia [Disease (Nov.)]
- abetalipoproteinemia [MeSH Descriptor]
- abetalipoproteinemia [SNOMED Notion]
- abetalipoproteinemia [MeSH concept]
Validated automatic mappings to NTBT
- Acanthocytosis [ICD-11 More detail]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- MTTP Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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