Myoadenylate deaminase deficiency

Preferred Label : Myoadenylate deaminase deficiency;

ICD-11 definition : This refers to deficiency in an enzyme that converts adenosine monophosphate (AMP) to inosine monophosphate (IMP), freeing an ammonia molecule in the process.;

Details

Origin ID

1204172345;

UMLS CUI

C0268123;

Currated CISMeF NLP mapping
- Adenosine monophosphate deaminase deficiency [ORDO Disease]
- Muscle adenosine monophosphate deaminase deficiency (disorder) [SNOMED CT concept]
- muscle amp deaminase deficiency [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Muscle adenosine monophosphate deaminase deficiency (disorder) [SNOMED CT concept]
- muscle amp deaminase deficiency [SNOMED Notion]

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