Autosomal dominant hypophosphataemic rickets

Preferred Label : Autosomal dominant hypophosphataemic rickets;

ICD-11 definition : Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia.;

ICD-11 synonym : Autosomal dominant hypophosphatemia; ADHR - [autosomal dominant hypophosphataemic rickets];

ICD-11 acronym : ADHR;

Details

Origin ID

2098026628;

Automatic exact mappings (from CISMeF team)
- AVPR2 wt Allele [NCIt concept]
- Arginine vasopressin receptor 2 [OMIM gene]
- FGF23 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Autosomal dominant hypophosphataemic rickets [MedDRA LLT]
- Autosomal dominant hypophosphatemic rickets [ORDO Disease]
- Autosomal dominant hypophosphatemic rickets (disorder) [SNOMED CT concept]
- Hypophosphatemic rickets [HPO term]
- Hypophosphatemic rickets, autosomal dominant [OMIM Phenotype]
- hypophosphatemic rickets, autosomal dominant [MeSH Supplementary Concept]

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