Cerebral Creatine Deficiency Syndrome 3

Preferred Label : Cerebral Creatine Deficiency Syndrome 3;

NCIt synonyms : CCDS3; GATM Deficiency;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the GATM gene, encoding glycine amidinotransferase, mitochondrial. The resulting enzyme deficiency is characterized by developmental delay, intellectual disability, and severe impairment of speech.;

Details

Origin ID

C198575;

UMLS CUI

C2675179;

Currated CISMeF NLP mapping
- AGAT deficiency [DO Concept]
- Arginine-Glycine Amidinotransferase Deficiency [MeSH Supplementary Concept]
- Cerebral creatine deficiency syndrome 3 [OMIM Phenotype]
- Cerebral creatine deficiency syndrome 3 (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- AGAT deficiency [MedDRA LLT]
- Arginine glycine amidinotransferase deficiency [ICD-11 More detail]
- Arginine-Glycine Amidinotransferase Deficiency [MeSH Supplementary Concept]
- Arginine-Glycine Amidinotransferase Deficiency [MeSH concept]
- Cerebral creatine deficiency syndrome 3 [OMIM Phenotype]
- Cerebral creatine deficiency syndrome 3 (disorder) [SNOMED CT concept]
- L-arginine-glycine amidinotransferase deficiency [MedDRA LLT]
- creatine deficiency syndrome due to AGAT deficiency [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- GATM Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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