Adenosine monophosphate deaminase deficiency

Preferred Label : Adenosine monophosphate deaminase deficiency;

ICD-11 definition : Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder for which two forms have been described.: lack of activity of the erythrocyte isoform of AMP deaminase without obvious clinical relevance and myoadenylate deaminase deficiency, an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle characterised by exercise-induced muscle pain, cramps and/or early fatigue.;

ICD-11 synonym : Adenosine aminohydrolase deficiency; AMP deaminase deficiency;

Details

Origin ID

550341491;

UMLS CUI

C2931781;

Currated CISMeF NLP mapping
- Adenosine monophosphate deaminase deficiency [MeSH concept]
- Adenosine monophosphate deaminase deficiency [ORDO Disease]
- Deficiency of adenosine monophosphate deaminase (disorder) [SNOMED CT concept]
- adenosine monophosphate deaminase deficiency [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Adenosine monophosphate deaminase deficiency [MeSH concept]
- Deficiency of adenosine monophosphate deaminase (disorder) [SNOMED CT concept]
- adenosine monophosphate deaminase deficiency [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- Muscle adenosine monophosphate deaminase deficiency (disorder) [SNOMED CT concept]
- muscle amp deaminase deficiency [SNOMED Notion]
Validated automatic mappings to NTBT
- Adenosine deaminase deficiency (disorder) [SNOMED CT concept]

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