Other specified disorders of amino-acid metabolism

Preferred Label : Other specified disorders of amino-acid metabolism;

Inclusion CIM-10 : Disorders of beta-amino-acid metabolism; Disorders of gamma-glutamyl cycle;

Diag associé à un acte (%) : 62.9;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

E728;

UMLS CUI

C0029774;

Automatic exact mappings (from CISMeF team)
- Disorder of the gamma-glutamyl cycle [ORDO Disease]
- Disorder of the gamma-glutamyl cycle (disorder) [SNOMED CT concept]
Orphanet concepts
- 2-hydroxyglutaric aciduria [ORDO Disease]
- 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form [ORDO Disease]
- 3-phosphoserine phosphatase deficiency, infantile/juvenile form [ORDO Disease]
- 5-oxoprolinase deficiency [ORDO Disease]
- Congenital brain dysgenesis due to glutamine synthetase deficiency [ORDO Disease]
- Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome [ORDO Disease]
- Creatine deficiency syndrome [ORDO Disease]
- D,L-2-hydroxyglutaric aciduria [ORDO Disease]
- D-2-hydroxyglutaric aciduria [ORDO Disease]
- Disorder of gamma-aminobutyric acid metabolism [ORDO Disease]
- Disorder of glutamine metabolism [ORDO Disease]
- Disorder of proline metabolism [ORDO Disease]
- Disorder of the gamma-glutamyl cycle [ORDO Disease]
- Gamma-aminobutyric acid transaminase deficiency [ORDO Disease]
- Gamma-glutamyl transpeptidase deficiency [ORDO Disease]
- Guanidinoacetate methyltransferase deficiency [ORDO Disease]
- HSD10 disease [ORDO Disease]
- HSD10 disease, infantile type [ORDO Disease]
- HSD10 disease, neonatal type [ORDO Disease]
- Homocarnosinosis [ORDO Disease]
- Hyperinsulinism-hyperammonemia syndrome [ORDO Disease]
- L-2-hydroxyglutaric aciduria [ORDO Disease]
- L-Arginine:glycine amidinotransferase deficiency [ORDO Disease]
- Malonic aciduria [ORDO Disease]
- Neurological conditions associated with aminoacylase 1 deficiency [ORDO Disease]
- Neurometabolic disorder due to serine deficiency [ORDO Disease]
- Pellagra-like skin rash-neurological manifestations syndrome [ORDO Disease]
- Phosphoserine aminotransferase deficiency, infantile/juvenile form [ORDO Disease]
- Prolidase deficiency [ORDO Disease]
- Serine biosynthesis pathway deficiency, infantile/juvenile form [ORDO Disease]
- Succinic semialdehyde dehydrogenase deficiency [ORDO Disease]
- X-linked creatine transporter deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Other specified disorders of amino-acid metabolism [ICD-9 code]
Validated automatic mappings to BTNT
- Disorders of the gamma-glutamyl cycle [ICD-11 Subcategory]

Keyword's position in hierarchy(ies) :

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