Arginine-Glycine Amidinotransferase Deficiency

Preferred Label : Arginine-Glycine Amidinotransferase Deficiency;

MeSH note : mutation in GATM;

CISMeF synonym : Arginine:Glycine amidinotransferase deficiency;

MeSH synonym : creatine deficiency syndrome due to AGAT deficiency; AGAT deficiency; L-Arginine:Glycine aminidotransferase deficiency; GATM Deficiency; Arginine:Glycine Amidinotransferase Deficiency;

Details

Origin ID

C567192;

UMLS CUI

C2675179;

Automatic exact mappings (from CISMeF team)
- AGAT deficiency [MedDRA LLT]
Currated CISMeF NLP mapping
- AGAT deficiency [DO Concept]
- Arginine glycine amidinotransferase deficiency [ICD-11 More detail]
- Cerebral Creatine Deficiency Syndrome 3 [NCIt concept]
- Cerebral creatine deficiency syndrome 3 [OMIM Phenotype]
- Cerebral creatine deficiency syndrome 3 (disorder) [SNOMED CT concept]
- L-Arginine:glycine amidinotransferase deficiency [ORDO Disease]
- creatine deficiency syndrome due to AGAT deficiency [Disease (Nov.)]
MeSH term(s) associated for indexing
- amidinotransferases [MeSH Descriptor]
- amino acid metabolism, inborn errors [MeSH Descriptor]
- developmental disabilities [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- speech disorders [MeSH Descriptor]
Record concept(s)
- Arginine-Glycine Amidinotransferase Deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- AGAT deficiency [DO Concept]
- AGAT deficiency [MedDRA LLT]
- Arginine glycine amidinotransferase deficiency [ICD-11 More detail]
- Cerebral creatine deficiency syndrome 3 [OMIM Phenotype]
- Cerebral creatine deficiency syndrome 3 (disorder) [SNOMED CT concept]
- L-Arginine:glycine amidinotransferase deficiency [ORDO Disease]
- L-arginine-glycine amidinotransferase deficiency [MedDRA LLT]
- creatine deficiency syndrome due to AGAT deficiency [Disease (Nov.)]

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