molybdenum cofactor deficiency

Preferred Label : molybdenum cofactor deficiency;

MeSH note : Combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase;

Détails

Origin ID

C535811;

UMLS CUI

C0268119;

Automatic exact mappings (from CISMeF team)
- Molybdenum cofactor deficiency [OMIM phenotypic series]
Currated CISMeF NLP mapping
- Combined molybdoflavoprotein enzyme deficiency (disorder) [SNOMED CT concept]
- Molybdenum Cofactor Deficiency [NCIt concept]
- Molybdenum cofactor deficiency [HPO term]
- Molybdenum cofactor deficiency [MedDRA Preferred Term]
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency [ORDO Disease]
- combined molybdoflavoprotein enzyme deficiency [SNOMED Notion]
- molybdenum cofactor deficiency [DO Concept]
- molybdenum cofactor deficiency [Disease (Nov.)]
HPO term
- Molybdenum cofactor deficiency [HPO term]
Has phenotype(s) (HPO)
- Feeding difficulties [HPO term]
- Lens dislocation [HPO term]
MeSH term(s) associated for indexing
- metal metabolism, inborn errors [MeSH Descriptor]
- molybdoferredoxin [MeSH Descriptor]
Record concept(s)
- Molybdenum cofactor deficiency [MeSH concept]
See also (suggested by CISMeF)
- molybdopterin [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Xanthinuria type 2 [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined molybdoflavoprotein enzyme deficiency (disorder) [SNOMED CT concept]
- Molybdenum Cofactor Deficiency [NCIt concept]
- Molybdenum cofactor deficiency [MedDRA Preferred Term]
- Molybdenum cofactor deficiency [HPO term]
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency [ORDO Disease]
- combined molybdoflavoprotein enzyme deficiency [SNOMED Notion]
- molybdenum cofactor deficiency [DO Concept]
- molybdenum cofactor deficiency [Disease (Nov.)]
Validated automatic mappings to BTNT
- Molybdenum cofactor deficiency, type a [OMIM Phenotype]

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