X-Linked Dominant Hypophosphatemic Rickets

Preferred Label : X-Linked Dominant Hypophosphatemic Rickets;

NCIt synonyms : X-Linked Hypophosphatemia;

NCIt related terms : Vitamin D-resistant Rickets; X-linked Hypophosphatemic Rickets; Hereditary 1,25(OH)2D-resistant Rickets; Hypophosphatemic Vitamin D-resistant Rickets;

NCIt definition : An X-linked dominant disorder caused by mutations in the PHEX gene. It is characterized by growth retardation, osteomalacia, hypophosphatemia, and defects in the renal reabsorption of phosphorus.;

Alternative definition : NICHD: Hypophosphatemic rickets due to renal phosphate wasting as a result of mutation(s) in the X-chromosomal PHEX gene, encoding phosphate-regulating neutral endopeptidase. This condition is characterized by normal serum calcium, increased serum alkaline phosphatase, low or inappropriately normal concentrations of 1,25-dihydroxyvitamin D (calcitriol), variable short stature, frontal bossing, dental abscesses, tibial bowing, and inflammation of the insertion sites of ligaments and tendons.;

Details

Origin ID

C85234;

UMLS CUI

C0733682;

C3540852;

Automatic exact mappings (from CISMeF team)
- Hypophosphatemic rickets [MedDRA LLT]
- Rickets (vitamin D resistant) [MedDRA LLT]
- Rickets - vitamin D resistant [MedDRA LLT]
- X-linked hypophosphataemia [MedDRA LLT]
- X-linked hypophosphatemia [MedDRA LLT]
- hypophosphatemia, familial [MeSH Descriptor]
- rickets, hypophosphatemic [MeSH Descriptor]
Currated CISMeF NLP mapping
- Familial x-linked hypophosphatemic vitamin D refractory rickets (disorder) [SNOMED CT concept]
- Hypophosphatemic rickets, X-linked dominant [OMIM Phenotype]
- X linked hypophosphatemia [Disease (Nov.)]
- X-linked dominant hypophosphatemic rickets [DO Concept]
- X-linked hypophosphatemia [ORDO Disease]
- familial hypophosphatemic rickets [MeSH Descriptor]
- hypophosphatemic rickets, X-Linked dominant [MeSH concept]
- rickets, X-Linked hypophosphatemic [MeSH concept]
DO Cross reference
- X-linked dominant hypophosphatemic rickets [DO Concept]
Has associated anatomic sites
- Bone [NCIt concept]
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
See also inter- (CISMeF)
- familial x-linked hypophosphatemic vitamin d refractory rickets [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypophosphatemic rickets, X-linked dominant [OMIM Phenotype]
- X-linked hypophosphataemia [MedDRA LLT]
- X-linked hypophosphatemia [MedDRA LLT]
- hypophosphatemic rickets, X-Linked dominant [MeSH concept]
- rickets, X-Linked hypophosphatemic [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
- Pediatric Nephrology Terminology [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Bone [NCIt concept]
disease_mapped_to_gene
- PHEX Gene [NCIt concept]

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