Glycine Encephalopathy

Preferred Label : Glycine Encephalopathy;

NCIt synonyms : Nonketotic Hyperglycinemia;

NCIt related terms : Non-Ketotic Hyperglycinemia;

NCIt definition : An autosomal recessive metabolic disorder caused by mutations in the AMT and GLDC genes. It is characterized by abnormal accumulation of glycine in the brain and other tissues. Signs and symptoms include lethargy, feeding difficulties, hypotonia, intellectual deformities, and seizures.;

Détails

Origin ID

C84937;

UMLS CUI

C0751748;

Automatic exact mappings (from CISMeF team)
- Disorders of glycine metabolism [ICD-10 Sub-category (who)]
- Disorders of glycine metabolism [ICD-10 Sub-category]
- Glycine encephalopathy [MedDRA LLT]
- Nonketotic hyperglycinaemia [MedDRA LLT]
- aminomethyltransferase [HGNC gene]
- aminomethyltransferase [ORDO Gene]
- glycine decarboxylase [HGNC gene]
- glycine decarboxylase [ORDO Gene]
Currated CISMeF NLP mapping
- Glycine encephalopathy [ICD-11 Sub-sub category]
- Glycine encephalopathy [ORDO Disease]
- Glycine encephalopathy 1 [OMIM Phenotype]
- Non-ketotic hyperglycinemia (disorder) [SNOMED CT concept]
- Nonketotic hyperglycinaemia [MedDRA Preferred Term]
- Nonketotic hyperglycinemia [MedDRA LLT]
- Nonketotic hyperglycinemia [HPO term]
- glycine encephalopathy [Disease (Nov.)]
- glycine encephalopathy [DO Concept]
- hyperglycinemia, nonketotic [MeSH Descriptor]
- hyperglycinemia, nonketotic [MeSH concept]
DO Cross reference
- glycine encephalopathy [DO Concept]
Has associated anatomic sites
- Brain [NCIt concept]
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
See also inter- (CISMeF)
- Nonketotic hyperglycinaemia [MedDRA Preferred Term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycine encephalopathy [ORDO Disease]
- Glycine encephalopathy [ICD-11 Sub-sub category]
- Glycine encephalopathy [MedDRA LLT]
- Glycine encephalopathy 1 [OMIM Phenotype]
- Neonatal glycine encephalopathy [ORDO Disease]
- Non-ketotic hyperglycinemia (disorder) [SNOMED CT concept]
- Nonketotic hyperglycinaemia [MedDRA Preferred Term]
- Nonketotic hyperglycinaemia [MedDRA LLT]
- Nonketotic hyperglycinemia [MedDRA LLT]
- Nonketotic hyperglycinemia [HPO term]
- glycine encephalopathy [DO Concept]
- glycine encephalopathy [Disease (Nov.)]
- hyperglycinemia, nonketotic [MeSH Descriptor]
- hyperglycinemia, nonketotic [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Congenital Lesion [NCIt concept]
- Rare Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Brain [NCIt concept]
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
disease_mapped_to_gene
- AMT Gene [NCIt concept]
- GLDC Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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