Haemolytic anaemia due to adenosine triphosphatase deficiency

Preferred Label : Haemolytic anaemia due to adenosine triphosphatase deficiency;

ICD-11 definition : This syndrome is characterized by nonspherocytic hemolytic anemia due to deficiency of adenosine triphosphatase (ATPase). It has been described in two kindreds, in which at least two generations were affected. The syndrome is probably transmitted as a dominant trait.;

Details

Origin ID

1962769201;

UMLS CUI

C1863225;

CISMeF manual mappings
- adenosine triphosphatase deficiency, anemia due to [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Adenosine triphosphatase deficiency, anemia due to [OMIM Phenotype]
- Anemia due to adenosine triphosphatase deficiency [ORDO Disease]
- Nonspherocytic hemolytic anemia due to deficiency of adenosinetriphosphatase (disorder) [SNOMED CT concept]
- adenosine triphosphatase deficiency, anemia due to [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Adenosine triphosphatase deficiency, anemia due to [OMIM Phenotype]
- Anemia due to adenosine triphosphatase deficiency [ORDO Disease]
- adenosine triphosphatase deficiency, anemia due to [MeSH concept]
- adenosine triphosphatase deficiency, anemia due to [MeSH Supplementary Concept]

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