Autosomal Recessive Hypophosphatemia Rickets

Preferred Label : Autosomal Recessive Hypophosphatemia Rickets;

NCIt related terms : Autosomal Recessive Hypophosphatemic Rickets;

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

Alternative definition : NICHD: Hypophosphatemic rickets due to inactivating mutation(s) in the DMP1 gene, encoding dentin matrix acidic phosphoprotein 1, or in the ENPP1 gene, encoding ectonucleotide pyrophosphatase/phosphodiesterase family member 1. The condition is characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D (calcitriol) levels.;

Details

Origin ID

C123187;

UMLS CUI

C0342643;

Currated CISMeF NLP mapping
- Autosomal recessive hypophosphataemic rickets [ICD-11 More detail]
- Autosomal recessive hypophosphataemic rickets [MedDRA LLT]
- Autosomal recessive hypophosphatemic rickets [ORDO Disease]
- Autosomal recessive hypophosphatemic rickets [MedDRA LLT]
- Autosomal recessive hypophosphatemic rickets (disorder) [SNOMED CT concept]
- Autosomal recessive hypophosphatemic vitamin D refractory rickets (disorder) [SNOMED CT concept]
- autosomal recessive hypophosphatemic rickets [DO Concept]
- autosomal recessive hypophosphatemic vitamin d refractory rickets [SNOMED Notion]
- hypophosphatemic rickets, autosomal recessive, 1 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive hypophosphataemic rickets [MedDRA LLT]
- Autosomal recessive hypophosphatemic rickets [ORDO Disease]
- Autosomal recessive hypophosphatemic rickets [MedDRA LLT]
- Autosomal recessive hypophosphatemic rickets (disorder) [SNOMED CT concept]
- Autosomal recessive hypophosphatemic vitamin D refractory rickets (disorder) [SNOMED CT concept]
- Hypophosphatemic rickets, autosomal recessive, 1 [OMIM Phenotype]
- autosomal recessive hypophosphatemic rickets [DO Concept]
- autosomal recessive hypophosphatemic vitamin d refractory rickets [SNOMED Notion]
- hypophosphatemic rickets, autosomal recessive, 1 [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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