Acatalasemia - CISMeF

Preferred Label : Acatalasemia;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : ACATALASIA; Catalase deficiency;

Description : Acatalasemia, also known as acatalasia, is a metabolic disorder characterized by a total or near total loss of catalase activity in erythrocytes. About half of cases originate from ulcerating oral gangrenes, and these cases are referred to as having Takahara disease. Half-normal levels of catalase in heterozygotes is referred to as hypocatalasemia or hypocatalasia (Ogata, 1991).;

Prefixed ID : #614097;

Détails

Origin ID

614097;

UMLS CUI

C0268419;

Currated CISMeF NLP mapping
- Acatalasemia [PASCAL descriptor]
- Acatalasemia [MedDRA LLT]
- Acatalasemia [NCIt concept]
- 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]
False automatic mappings
- Deficiency of catalase (disorder) [SNOMED CT concept]
- catalase deficiency [MeSH concept]
Genes related to phenotype
- Catalase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Oral ulcer [HPO term]
- Reduced catalase level [HPO term]
ORDO concept(s)
- Acatalasemia [ORDO Disease]
See also inter- (CISMeF)
- catalase deficiency [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acatalasaemia [MedDRA Preferred Term]
- Acatalasemia [NCIt concept]
- Acatalasemia [PASCAL descriptor]
- Acatalasemia [MedDRA LLT]
- Acatalasemia (disorder) [SNOMED CT concept]
- Acatalasia [MedDRA LLT]
- Acatalasia (disorder) [Inactive SNOMED CT concept]
- acatalasia [SNOMED Notion]
- acatalasia [MeSH Descriptor]
- acatalasia [MeSH concept]
- acatalasia [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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