hyperglycinemia, nonketotic

Preferred Label : hyperglycinemia, nonketotic;

MeSH definition : An autosomal recessive metabolic disorder caused by deficiencies in the mitochondrial GLYCINE cleavage system.;

MeSH synonym : hyperglycinemias, nonketotic; nonketotic hyperglycinemias; nonketotic hyperglycinemia; non-ketotic hyperglycinemia; hyperglycinemia, non-ketotic; hyperglycinemias, non-ketotic; non ketotic hyperglycinemia; non-ketotic hyperglycinemias; glycine encephalopathy; encephalopathies, glycine; encephalopathy, glycine; glycine encephalopathies;

MeSH hyponym : hyperglycinemia, nonketotic, type II; hyperglycinemia, nonketotic, type I; hyperglycinemia, nonketotic, type III; Type III Nonketotic Hyperglycinemia; Nonketotic Hyperglycinemia, Type III; Type I Nonketotic Hyperglycinemia; Nonketotic Hyperglycinemia, Type I; Type II Nonketotic Hyperglycinemia; Nonketotic Hyperglycinemia, Type II;

MeSH annotation : Do not confuse with HYPERGLYCEMIC HYPEROSMOLAR NONKETOTIC COMA;

Wikipedia link : https://en.wikipedia.org/wiki/Glycine encephalopathy;

Details

Origin ID

D020158;

UMLS CUI

C0751748;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Aminomethyltransferase deficiency (disorder) [SNOMED CT concept]
- Disorders of glycine metabolism [ICD-10 Sub-category]
- Disorders of glycine metabolism [ICD-10 Sub-category (who)]
- Glycine encephalopathy [MedDRA LLT]
- Nonketotic hyperglycinaemia [MedDRA LLT]
- Propionic acidemia [OMIM Phenotype]
- Propionic acidemia (disorder) [SNOMED CT concept]
- aminomethyltransferase [HGNC gene]
- aminomethyltransferase deficiency [SNOMED Notion]
- glycine decarboxylase [HGNC gene]
- glycine dehydrogenase (decarboxylating) deficiency [SNOMED Notion]
Currated CISMeF NLP mapping
- Glycine Encephalopathy [NCIt concept]
- 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 [DO Concept]
- glycine encephalopathy [Disease (Nov.)]
DO Cross reference
- glycine encephalopathy [DO Concept]
HPO term
- Nonketotic hyperglycinemia [HPO term]
Manual NTBT mappings (CISMeF)
- Disorder of amino acid and other organic acid metabolism [ORDO Disease]
- Disorder of serine or glycine metabolism [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
Record concept(s)
- hyperglycinemia, nonketotic [MeSH concept]
- hyperglycinemia, nonketotic, type I [MeSH concept]
- hyperglycinemia, nonketotic, type II [MeSH concept]
- hyperglycinemia, nonketotic, type III [MeSH concept]
Related MeSH Supplementary Concept(s)
- Non ketotic hyperglycinemia syndrome [MeSH Supplementary Concept]
- hyperglycinemia, transient neonatal [MeSH Supplementary Concept]
See also inter- (CISMeF)
- glycine encephalopathy [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycine Encephalopathy [NCIt 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.)]
Validated automatic mappings to BTNT
- Aminomethyltransferase deficiency (disorder) [SNOMED CT concept]
- Glycine dehydrogenase (decarboxylating) deficiency (disorder) [SNOMED CT concept]
- Non-ketotic hyperglycinemia H protein deficiency (disorder) [SNOMED CT concept]

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