vitamin D Hydroxylation-Deficient rickets, type 1B

Preferred Label : vitamin D Hydroxylation-Deficient rickets, type 1B;

MeSH note : mutation in CYP2R1;

MeSH synonym : pseudovitamin D3 deficiency rickets due to 25-Hydroxylase deficiency; vitamin D-Dependent rickets, type 1B; 25-Hydroxyvitamin D3 deficiency, selective; VDDR1B;

Details

Origin ID

C564005;

UMLS CUI

C1838657;

Currated CISMeF NLP mapping
- Vitamin D 25-Hydroxylase Deficiency [NCIt concept]
- Vitamin D hydroxylation-deficient rickets, type 1b [OMIM Phenotype]
MeSH term(s) associated for indexing
- familial hypophosphatemic rickets [MeSH Descriptor]
Record concept(s)
- vitamin D Hydroxylation-Deficient rickets, type 1B [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Vitamin D 25-Hydroxylase Deficiency [NCIt concept]
- Vitamin D hydroxylation-deficient rickets, type 1b [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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