Guanidinoacetate methyltransferase deficiency

Preferred Label : Guanidinoacetate methyltransferase deficiency;

ICD-11 definition : Guanidinoacetate methyltransferase deficiency is an inborn error of creatine synthesis with variable clinical phenotype including a spectrum of neurological involvement from progressive extrapyramidal movement disorder and severe muscular hypotonia, to epilepsy and intellectual development disorder.;

ICD-11 synonym : Cerebral creatine deficiency; GAMT - [guanidinoacetate methyltransferase] deficiency; GAMT deficiency;

Details

Origin ID

1811642217;

UMLS CUI

C0574080;

Automatic exact mappings (from CISMeF team)
- Guanidinoacetate methyltransferase (substance) [SNOMED CT concept]
- guanidinoacetate N-methyltransferase [MeSH Descriptor]
Currated CISMeF NLP mapping
- Cerebral Creatine Deficiency Syndrome 2 [NCIt concept]
- Cerebral creatine deficiency syndrome 2 [OMIM Phenotype]
- Deficiency of guanidinoacetate methyltransferase (disorder) [SNOMED CT concept]
- Guanidinoacetate methyltransferase deficiency [MeSH concept]
- Guanidinoacetate methyltransferase deficiency [ORDO Disease]
- guanidinoacetate methyltransferase deficiency [DO Concept]
- guanidinoacetate methyltransferase deficiency [MeSH Supplementary Concept]
- guanidinoacetate methyltransferase deficiency [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cerebral Creatine Deficiency Syndrome 2 [NCIt concept]
- Cerebral creatine deficiency syndrome 2 [OMIM Phenotype]
- Deficiency of guanidinoacetate methyltransferase (disorder) [SNOMED CT concept]
- Guanidinoacetate methyltransferase deficiency [MeSH concept]
- Guanidinoacetate methyltransferase deficiency [ORDO Disease]
- Guanidinoacetate methyltransferase deficiency [LOINC component]
- guanidinoacetate methyltransferase deficiency [DO Concept]
- guanidinoacetate methyltransferase deficiency [MeSH Supplementary Concept]
- guanidinoacetate methyltransferase deficiency [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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