Hypophosphatemic Rickets

Preferred Label : Hypophosphatemic Rickets;

NCIt related terms : Phosphopenic Rickets;

Alternative definition : NICHD: Rickets due to low serum phosphate concentrations, the cause of which can be nutritional or genetic. This condition is characterized by normal parathyroid hormone concentrations, usually caused by renal phosphate wasting occurring in isolation or as part of a renal tubular disorder, and characterized by resistance to treatment with ultraviolet radiation or vitamin D.;

Details

Origin ID

C131449;

UMLS CUI

C1704375;

Automatic exact mappings (from CISMeF team)
- Familial x-linked hypophosphatemic vitamin D refractory rickets (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Hypophosphataemic rickets [MedDRA LLT]
- Hypophosphataemic rickets [MedDRA Preferred Term]
- Hypophosphatemic rickets [MedDRA LLT]
- Hypophosphatemic rickets [ORDO Disease]
- Hypophosphatemic rickets [HPO term]
- Hypophosphatemic rickets [PASCAL descriptor]
- Hypophosphatemic rickets [OMIM phenotypic series]
- Phosphopenic type rickets (disorder) [SNOMED CT concept]
- phosphopenic type rickets [SNOMED Notion]
- rickets, hypophosphatemic [MeSH Descriptor]
- rickets, hypophosphatemic [MeSH concept]
Has associated anatomic sites
- Bone [NCIt concept]
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant hypophosphatemic rickets [ORDO Disease]
- Hypophosphataemic rickets [MedDRA Preferred Term]
- Hypophosphataemic rickets [MedDRA LLT]
- Hypophosphatemic rickets [ORDO Disease]
- Hypophosphatemic rickets [HPO term]
- Hypophosphatemic rickets [MedDRA LLT]
- Phosphopenic type rickets (disorder) [SNOMED CT concept]
- phosphopenic type rickets [SNOMED Notion]
- rickets, hypophosphatemic [MeSH Descriptor]
- rickets, hypophosphatemic [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]

Keyword's position in hierarchy(ies) :

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