Molybdenum cofactor deficiency, complementation group A

Preferred Label : Molybdenum cofactor deficiency, complementation group A;

ICD-11 synonym : Molybdenum cofactor deficiency due tio defects in MOCS1 gene;

Details

Origin ID

490508412;

UMLS CUI

C1854988;

Currated CISMeF NLP mapping
- Molybdenum cofactor deficiency complementation group A (disorder) [SNOMED CT concept]
- Molybdenum cofactor deficiency, type a [OMIM Phenotype]
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ORDO Disease]
- molybdenum cofactor deficiency type A [DO Concept]
- molybdenum cofactor deficiency, complementation group A [MeSH concept]
- molybdenum cofactor deficiency, complementation group A [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Molybdenum cofactor deficiency complementation group A (disorder) [SNOMED CT concept]
- Molybdenum cofactor deficiency, type a [OMIM Phenotype]
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [ORDO Disease]
- molybdenum cofactor deficiency type A [DO Concept]
- molybdenum cofactor deficiency, complementation group A [MeSH concept]
- molybdenum cofactor deficiency, complementation group A [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency [ORDO Disease]

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