Disorders of glycine metabolism

Preferred Label : Disorders of glycine metabolism;

Diag associé à un acte (%) : 68.4;

Source : OMS;

Date de début : 01/01/1997;

Origin ID

E725;

UMLS CUI

C0268558;

Automatic exact mappings (from CISMeF team)
- Abnormal circulating glycine concentration [HPO term]
- Glycine Encephalopathy [NCIt concept]
- Sarcosinemia [MeSH concept]
- disorders of glycine metabolism [Error of metabolism category]
- hydroxyprolinemia [MeSH concept]
- hydroxyprolinemia [MeSH Supplementary Concept]
- hyperglycinemia, nonketotic [MeSH Descriptor]
- hyperglycinemia, nonketotic [MeSH concept]
- sarcosinemia [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Disorder of glycine metabolism (disorder) [SNOMED CT concept]
- Disorders of glycine metabolism [ICD-11 Subcategory]
- disorder of glycine metabolism, nos [SNOMED Notion]
Orphanet concepts
- Atypical glycine encephalopathy [ORDO Disease]
- Dimethylglycine dehydrogenase deficiency [ORDO Disease]
- Glycine encephalopathy [ORDO Disease]
- Hyperprolinemia type 1 [ORDO Disease]
- Hyperprolinemia type 2 [ORDO Disease]
- Infantile glycine encephalopathy [ORDO Disease]
- Neonatal glycine encephalopathy [ORDO Disease]
- Sarcosinemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Disorder of glycine metabolism (disorder) [SNOMED CT concept]
- Disorders of glycine metabolism [ICD-11 Subcategory]
- disorder of glycine metabolism, nos [SNOMED Notion]