Molybdenum Cofactor Deficiency

Preferred Label : Molybdenum Cofactor Deficiency;

NCIt definition : An autosomal recessive condition that is caused by mutation(s) in the MOCS1 gene, encoding molybdenum cofactor biosynthesis protein 1. it is characterized by poor feeding, encephalopathy, seizures and dysmorphic facial features.;

Détails

Origin ID

C129076;

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 [HPO term]
- Molybdenum cofactor deficiency [MeSH concept]
- 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 [MeSH Supplementary Concept]
- molybdenum cofactor deficiency [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined molybdoflavoprotein enzyme deficiency (disorder) [SNOMED CT concept]
- Molybdenum cofactor deficiency [HPO term]
- Molybdenum cofactor deficiency [MeSH concept]
- 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 [MeSH Supplementary Concept]
- molybdenum cofactor deficiency [Disease (Nov.)]
Validated automatic mappings to BTNT
- Molybdenum cofactor deficiency, type a [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- MOCS1 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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