acatalasia - CISMeF

Preferred Label : acatalasia;

MeSH definition : A rare autosomal recessive disorder resulting from the absence of CATALASE activity. Though usually asymptomatic, a syndrome of oral ulcerations and gangrene may be present.;

MeSH synonym : disease, takahara; takaharas disease; takahara's disease; disease, takahara's; acatalasemia; takahara disease;

MeSH hyponym : hypocatalasemia; acatalasemia japanese type; acatalasemia swiss type; Hypocatalasia; Japanese Type, Acatalasemia; Swiss Type, Acatalasemia;

Related MeSH term : catalase deficiency; Catalase Deficiencies; Deficiencies, Catalase; Deficiency, Catalase;

Wikipedia link : https://en.wikipedia.org/wiki/Acatalasia;

Details

Origin ID

D020642;

UMLS CUI

C0268419;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Acatalasaemia [MedDRA Preferred Term]
- Acatalasia [MedDRA LLT]
Currated CISMeF NLP mapping
- Acatalasemia [PASCAL descriptor]
- Acatalasemia [MedDRA LLT]
- Acatalasemia [NCIt concept]
- Acatalasemia [OMIM Phenotype]
- Acatalasemia [ORDO Disease]
- Acatalasemia (disorder) [SNOMED CT concept]
- Acatalasia (disorder) [Inactive SNOMED CT concept]
- Deficiency of catalase (disorder) [SNOMED CT concept]
- acatalasia [DO Concept]
- acatalasia [SNOMED Notion]
DO Cross reference
- acatalasia [DO Concept]
MeSH Descriptor(s) used for indexing
- catalase [MeSH Descriptor]
Record concept(s)
- acatalasemia japanese type [MeSH concept]
- acatalasemia swiss type [MeSH concept]
- acatalasia [MeSH concept]
- catalase deficiency [MeSH concept]
- hypocatalasemia [MeSH concept]
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 [OMIM Phenotype]
- Acatalasemia [PASCAL descriptor]
- Acatalasemia [MedDRA LLT]
- Acatalasemia [NCIt concept]
- Acatalasemia (disorder) [SNOMED CT concept]
- Acatalasia [MedDRA LLT]
- Acatalasia (disorder) [Inactive SNOMED CT concept]
- acatalasia [SNOMED Notion]
- acatalasia [DO Concept]

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