Acatalasemia - CISMeF

Preferred Label : Acatalasemia;

NCIt synonyms : Acatalasia;

NCIt definition : A rare autosomal recessive disorder characterized by deficiency of catalase in the peripheral blood. It is usually manifested with periodontal infections.;

Details

Origin ID

C84526;

UMLS CUI

C0268419;

Automatic exact mappings (from CISMeF team)
- Acatalasia [MedDRA LLT]
Currated CISMeF NLP mapping
- Acatalasemia [PASCAL descriptor]
- Acatalasemia [MedDRA LLT]
- Acatalasemia [OMIM Phenotype]
- Acatalasemia [ORDO Disease]
- Acatalasemia (disorder) [SNOMED CT concept]
- Acatalasia (disorder) [Inactive SNOMED CT concept]
- acatalasia [DO Concept]
- acatalasia [MeSH Descriptor]
- acatalasia [MeSH concept]
- acatalasia [SNOMED Notion]
DO Cross reference
- acatalasia [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acatalasaemia [MedDRA Preferred Term]
- Acatalasemia [OMIM Phenotype]
- Acatalasemia [PASCAL descriptor]
- Acatalasemia [MedDRA LLT]
- Acatalasemia (disorder) [SNOMED CT concept]
- Acatalasia [MedDRA LLT]
- Acatalasia (disorder) [Inactive SNOMED CT concept]
- acatalasia [DO Concept]
- acatalasia [SNOMED Notion]
- acatalasia [MeSH concept]
- acatalasia [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- CAT Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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