Vitamin D Dependent Rickets 2b

Preferred Label : Vitamin D Dependent Rickets 2b;

NCIt synonyms : Hereditary 1,25 Dihydroxyvitamin D-Resistant Rickets with Abnormal Vitamin D Receptor without Alopecia;

NCIt related terms : Vitamin D Resistant Rickets; Vitamin D Receptor Signaling Defect Rickets;

CISMeF acronym : VDDR2B;

NCIt definition : Rickets caused by a post-receptor defect in the vitamin D signaling pathway producing vitamin D resistance due to constitutive overexpression of a nuclear ribonucleoprotein that competes with the vitamin D receptor-retinoid X receptor dimer binding with DNA vitamin D response elements. This condition has a similar phenotype to vitamin D receptor deficiency rickets including elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations.;

Alternative definition : NICHD: Rickets caused by a post-receptor defect in the vitamin D signaling pathway producing vitamin D resistance due to constitutive overexpression of a nuclear ribonucleoprotein that competes with the vitamin D receptor-retinoid X receptor dimer binding with DNA vitamin D response elements. This condition has a similar phenotype to vitamin D receptor deficiency rickets, including elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations.;

NCI Metathesaurus CUI : CL521299;

Details

Origin ID

C131076;

UMLS CUI

C3536983;

Automatic exact mappings (from CISMeF team)
- Familial x-linked hypophosphatemic vitamin D refractory rickets (disorder) [SNOMED CT concept]
- Hypophosphatemic rickets [MedDRA LLT]
- Rickets (vitamin D resistant) [MedDRA LLT]
- Rickets - vitamin D resistant [MedDRA LLT]
- X-linked dominant hypophosphatemic rickets [DO Concept]
- familial hypophosphatemic rickets [MeSH Descriptor]
- hypophosphatemia, familial [MeSH Descriptor]
- rickets, hypophosphatemic [MeSH Descriptor]
CISMeF manual mappings
- Vitamin D-dependent rickets, type 2b, with normal vitamin D receptor [OMIM Phenotype]
- vitamin D-Dependent rickets, type 2B, with normal vitamin D receptor [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- vitamin D-Dependent rickets, type 2B, with normal vitamin D receptor [MeSH concept]
Has associated anatomic sites
- Bone [NCIt concept]
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
See also inter- (CISMeF)
- 25 hydroxyvitamin d deficiency [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial hypophosphataemic rickets [MedDRA LLT]
- Familial hypophosphatemic rickets [MedDRA LLT]
- Hereditary hypophosphataemic rickets [MedDRA Preferred Term]
- Hereditary hypophosphatemic rickets [MedDRA LLT]
- Hypocalcemic vitamin D-resistant rickets [ORDO Disease]
- Rickets familial hypophosphataemic [MedDRA Preferred Term]
- Rickets familial hypophosphataemic [MedDRA LLT]
- Rickets familial hypophosphatemic [MedDRA LLT]
- Vitamin D-dependent rickets, type 2 (disorder) [SNOMED CT concept]
- familial hypophosphatemic rickets [MeSH Descriptor]
- familial hypophosphatemic rickets [MeSH concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Bone [NCIt concept]

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