guanidinoacetate methyltransferase deficiency

Preferred Label : guanidinoacetate methyltransferase deficiency;

MeSH synonym : creatine deficiency syndrome due to gamt deficiency; GAMT deficiency;

Details

Origin ID

C537622;

UMLS CUI

C0574080;

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 [ICD-11 More detail]
- Guanidinoacetate methyltransferase deficiency [ORDO Disease]
- guanidinoacetate methyltransferase deficiency [DO Concept]
- guanidinoacetate methyltransferase deficiency [Disease (Nov.)]
DO Cross reference
- guanidinoacetate methyltransferase deficiency [DO Concept]
MeSH term(s) associated for indexing
- guanidinoacetate N-methyltransferase [MeSH Descriptor]
- language development disorders [MeSH Descriptor]
- movement disorders [MeSH Descriptor]
ORDO relation(s)
- Guanidinoacetate methyltransferase deficiency [ORDO Disease]
Record concept(s)
- Guanidinoacetate methyltransferase deficiency [MeSH concept]
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 [ORDO Disease]
- Guanidinoacetate methyltransferase deficiency [ICD-11 More detail]
- Guanidinoacetate methyltransferase deficiency [LOINC component]
- guanidinoacetate methyltransferase deficiency [DO Concept]
- guanidinoacetate methyltransferase deficiency [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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