Autosomal Dominant Hypophosphatemia Rickets

Preferred Label : Autosomal Dominant Hypophosphatemia Rickets;

NCIt related terms : Autosomal Dominant Hypophosphatemic Rickets; Autosomal Dominant Vitamin D-resistant Rickets;

NCIt definition : An autosomal dominant renal phosphate wasting disorder that results in rickets.;

Alternative definition : NICHD: Hypophosphatemic rickets due to heterozygous mutation(s) in the FGF23 gene, encoding fibroblast growth factor 23, a protein involved in phosphate homeostasis. The altered protein is resistant to cleavage, resulting in elevated FGF23 concentrations; the condition is characterized by isolated renal phosphate wasting, resulting in hypophosphatemia, accompanied by inappropriately normal 1,25-dihydroxyvitamin D (calcitriol) concentrations.;

Details

Origin ID

C123186;

UMLS CUI

C0342642;

Currated CISMeF NLP mapping
- Autosomal dominant hypophosphatemic rickets [ORDO Disease]
- Autosomal dominant hypophosphatemic rickets [MedDRA LLT]
- Autosomal dominant hypophosphatemic rickets (disorder) [SNOMED CT concept]
- Hypophosphatemic rickets, autosomal dominant [OMIM Phenotype]
- autosomal dominant hypophosphatemic rickets [DO Concept]
- hypophosphatemic rickets, autosomal dominant [MeSH concept]
- hypophosphatemic rickets, autosomal dominant [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant hypophosphataemic rickets [MedDRA LLT]
- Autosomal dominant hypophosphatemic rickets [MedDRA LLT]
- Autosomal dominant hypophosphatemic rickets (disorder) [SNOMED CT concept]
- Hypophosphatemic rickets, autosomal dominant [OMIM Phenotype]
- autosomal dominant hypophosphatemic rickets [DO Concept]
- autosomal dominant hypophosphatemic rickets [Disease (Nov.)]
- hypophosphatemic rickets, autosomal dominant [MeSH Supplementary Concept]
- hypophosphatemic rickets, autosomal dominant [MeSH concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
- Pediatric Nephrology Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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