Isolated sulfite oxidase deficiency

Preferred Label : Isolated sulfite oxidase deficiency;

ICD-11 definition : This is the deficiency in an enzyme in the mitochondria of all eukaryotes. It oxidizes sulfite to sulfate and, via cytochrome c, transfers the electrons produced to the electron transport chain, allowing generation of ATP in oxidative phosphorylation.;

ICD-11 synonym : ISOD - [Isolated sulfite oxidase deficiency];

ICD-11 acronym : ISOD;

Details

Origin ID

963607692;

UMLS CUI

C2931746;

Automatic exact mappings (from CISMeF team)
- isolated sulfite oxidase deficiency [DO Concept]
Currated CISMeF NLP mapping
- Isolated sulfite oxidase deficiency [ORDO Disease]
- Sulfite oxidase deficiency, isolated [OMIM Phenotype]
- Sulfocysteinuria [MeSH concept]
False automatic mappings
- isodent [MeSH Supplementary Concept]
- isodent [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Sulfite oxidase deficiency syndrome (disorder) [SNOMED CT concept]
- Sulfite oxidase deficiency, isolated [OMIM Phenotype]
- Sulfocysteinuria [MeSH concept]
- Sulfocysteinuria [HPO term]
- sulfite oxidase deficiency syndrome [SNOMED Notion]
Validated automatic mappings to NTBT
- Sulfite oxidase deficiency syndrome (disorder) [SNOMED CT concept]
- sulfite oxidase deficiency [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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