Disorders of sulfur-bearing amino-acid metabolism

Preferred Label : Disorders of sulfur-bearing amino-acid metabolism;

ICD-10 exclusion note : cystinuria (E72.01); cystinosis (E72.04); transcobalamin II deficiency (D51.2);

Diag associé à un acte (%) : 60.5;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

E721;

UMLS CUI

C0268613;

Automatic exact mappings (from CISMeF team)
- Gamma-cystathionase deficiency [MeSH concept]
- Homocystinuria [NCIt concept]
- Sulfite oxidase deficiency [MeSH concept]
- gamma-cystathionase deficiency [MeSH Supplementary Concept]
- homocystinuria [MeSH Descriptor]
- homocystinuria [MeSH concept]
- sulfite oxidase deficiency [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Disorder of methionine cycle and sulfur amino acid metabolism [ORDO Disease]
- Disorder of sulfur-bearing amino acid metabolism (disorder) [SNOMED CT concept]
- Disorders of methionine cycle or sulphur amino acid metabolism [ICD-11 Subcategory]
- Disturbances of sulphur-bearing amino-acid metabolism [ICD-9 code]
- disorder of sulphur-bearing amino acid metabolism, nos [SNOMED Notion]
DO Cross reference
- glycine N-methyltransferase deficiency [DO Concept]
- hypermethioninemia due to adenosine kinase deficiency [DO Concept]
- hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase [DO Concept]
- molybdenum cofactor deficiency [DO Concept]
Excluded by
- Other thrombophilia [ICD-10 Sub-category]
ICD-10 exclusion(s)
- Transcobalamin II deficiency [ICD-10 Sub-category]
Manual NTBT mappings (CISMeF)
- Methylcobalamin deficiency type cblE [ORDO Disease]
- Methylcobalamin deficiency type cblG [ORDO Disease]
Orphanet concepts
- Beta-mercaptolactate cysteine disulfiduria [ORDO Disease]
- Brain demyelination due to methionine adenosyltransferase deficiency [ORDO Disease]
- Classic homocystinuria [ORDO Disease]
- Cystathioninuria [ORDO Disease]
- Disorder of methionine cycle and sulfur amino acid metabolism [ORDO Disease]
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation [ORDO Disease]
- Encephalopathy due to sulfite oxidase deficiency [ORDO Disease]
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency [ORDO Disease]
- Homocystinuria without methylmalonic aciduria [ORDO Disease]
- Hypermethioninemia due to glycine N-methyltransferase deficiency [ORDO Disease]
- Hypermethioninemia encephalopathy due to adenosine kinase deficiency [ORDO Disease]
- Isolated sulfite oxidase deficiency [ORDO Disease]
- Methylcobalamin deficiency type cblDv1 [ORDO Disease]
- Methylcobalamin deficiency type cblE [ORDO Disease]
- Methylcobalamin deficiency type cblG [ORDO Disease]
- Methylmalonic acidemia with homocystinuria type cblF [ORDO Disease]
- Methylmalonic acidemia with homocystinuria, type cblD [ORDO Disease]
- S-adenosylhomocysteine hydrolase deficiency [ORDO Disease]
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency [ORDO Disease]
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ORDO Disease]
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [ORDO Disease]
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C [ORDO Disease]
See also inter- (CISMeF)
- Abnormal circulating sulfur amino acid concentration [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Disorder of methionine cycle and sulfur amino acid metabolism [ORDO Disease]
- Disorder of sulfur-bearing amino acid metabolism (disorder) [SNOMED CT concept]
- Disorders of methionine cycle or sulphur amino acid metabolism [ICD-11 Subcategory]
- Disturbances of sulphur-bearing amino-acid metabolism [ICD-9 code]
- disorder of sulphur-bearing amino acid metabolism, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- molybdenum cofactor deficiency [DO Concept]

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