vitamin D Hydroxylation-Deficient rickets, type 1A

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

MeSH note : PROM mutation in CYP27B1 gene;

MeSH synonym : 1-Alpha-Hydroxylase deficiency; 25-Hydroxycholecalciferol-1-Hydroxylase deficiency; PDDR1A; VDDR1A; vitamin D dependency, type 1; vitamin D-Dependent rickets, type 1A; 1-Alpha, 25-Hydroxyvitamin D3 deficiency, selective; pseudovitamin D-Deficiency rickets, type IA;

Details

Origin ID

C562688;

UMLS CUI

C0268689;

Currated CISMeF NLP mapping
- Hypocalcemic vitamin D-dependent rickets [ORDO Disease]
- Vitamin D 1 Alpha-Hydroxylase Deficiency [NCIt concept]
- Vitamin D hydroxylation-deficient rickets, type 1a [OMIM Phenotype]
- Vitamin D-dependent rickets, type 1 (disorder) [SNOMED CT concept]
- pseudovitamin D deficiency rickets [Disease (Nov.)]
MeSH term(s) associated for indexing
- familial hypophosphatemic rickets [MeSH Descriptor]
Record concept(s)
- vitamin D Hydroxylation-Deficient rickets, type 1A [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypocalcemic vitamin D-dependent rickets [ORDO Disease]
- Vitamin D 1 Alpha-Hydroxylase Deficiency [NCIt concept]
- Vitamin D hydroxylation-deficient rickets, type 1a [OMIM Phenotype]
- Vitamin D-dependent rickets, type 1 (disorder) [SNOMED CT concept]
- pseudovitamin D deficiency rickets [Disease (Nov.)]
- vitamin d-dependent rickets, type 1 [SNOMED Notion]

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