Autosomal recessive hypophosphataemic rickets

Preferred Label : Autosomal recessive hypophosphataemic rickets;

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

ICD-11 synonym : ARHR - [autosomal recessive hypophosphataemic rickets]; Autosomal recessive hypophosphataemia;

ICD-11 acronym : ARHR;

Details

Origin ID

2054303530;

Automatic exact mappings (from CISMeF team)
- DMP1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Autosomal Recessive Hypophosphatemia Rickets [NCIt 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]

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