Arginine-Glycine Amidinotransferase Deficiency

Preferred Label : Arginine-Glycine Amidinotransferase Deficiency;

CISMeF synonym : Arginine:Glycine amidinotransferase deficiency;

UMLS semantic type : T047 - Disease or Syndrome;

Details

Origin ID

M0567492;

UMLS CUI

C2675179;

Currated CISMeF NLP mapping
- AGAT deficiency [DO Concept]
- 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]
- creatine deficiency syndrome due to AGAT deficiency [Disease (Nov.)]
Related record
- Arginine-Glycine Amidinotransferase Deficiency [MeSH Supplementary 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 [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]
- L-arginine-glycine amidinotransferase deficiency [MedDRA LLT]
- creatine deficiency syndrome due to AGAT deficiency [Disease (Nov.)]

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