sulfite oxidase deficiency

Preferred Label : sulfite oxidase deficiency;

CISMeF synonym : sulfocysteinuria;

Details

Origin ID

C538141;

UMLS CUI

C0268624;

Automatic exact mappings (from CISMeF team)
- Disorders of sulfur-bearing amino-acid metabolism [ICD-10 Sub-category]
- Disorders of sulfur-bearing amino-acid metabolism [ICD-10 Sub-category (who)]
- Sulfocysteinuria [HPO term]
- isolated sulfite oxidase deficiency [DO Concept]
CISMeF manual mappings
- Isolated sulfite oxidase deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Sulfite oxidase deficiency [HPO term]
- Sulfite oxidase deficiency (disorder) [SNOMED CT concept]
- Sulfite oxidase deficiency syndrome (disorder) [SNOMED CT concept]
- Sulfite oxidase deficiency, isolated [OMIM Phenotype]
- sulfite oxidase deficiency [Disease (Nov.)]
- sulfite oxidase deficiency syndrome [SNOMED Notion]
DO Cross reference
- isolated sulfite oxidase deficiency [DO Concept]
HPO term
- Sulfite oxidase deficiency [HPO term]
MeSH term(s) associated for indexing
- amino acid metabolism, inborn errors [MeSH Descriptor]
- sulfite oxidase [MeSH Descriptor]
Record concept(s)
- Sulfite oxidase deficiency [MeSH concept]
- Sulfocysteinuria [MeSH concept]
See also (suggested by CISMeF)
- S-sulphocysteine [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Isolated sulfite oxidase deficiency [ORDO Disease]
- Sulfite oxidase deficiency [HPO term]
- Sulfite oxidase deficiency (disorder) [SNOMED CT concept]
- Sulfite oxidase deficiency, isolated [OMIM Phenotype]
- sulfite oxidase deficiency [Disease (Nov.)]
Validated automatic mappings to BTNT
- Isolated sulfite oxidase deficiency [ICD-11 More detail]

Keyword's position in hierarchy(ies) :

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