Autosomal dominant hypophosphatemic rickets

disorder

SNOMED 237889002CUI C0342642

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

High urine phosphate levels

Very frequent (80-99%)HP:0003109

Hypophosphataemia

Very frequent (80-99%)HP:0002148

Bone pain

Frequent (30-79%)HP:0002653

Bowed lower limbs

Frequent (30-79%)HP:0002979

Deficient in vitamin D

Frequent (30-79%)HP:0100512

Elevated alkaline phosphatase

Frequent (30-79%)HP:0003155

Growth failure

Frequent (30-79%)HP:0001510

Iron-deficiency anaemia

Frequent (30-79%)HP:0001891

Muscle weakness

Frequent (30-79%)HP:0001324

Osteomalacia

Frequent (30-79%)HP:0002749

Tiredness

Frequent (30-79%)HP:0012378

Tooth abscess

Frequent (30-79%)HP:0030757

Weak and soft bones

Frequent (30-79%)HP:0002748

Bone fracture

Occasional (5-29%)HP:0020110

Low blood calcium levels

Very rare (1-4%)HP:0002901

Abnormality of the lower limb

HP:0002814

Decreased body height

HP:0004322

Dental problems

HP:0000164

Hypophosphatemic rickets

HP:0004912

Muscle weakness, generalised

HP:0003324

Tubular phosphate reabsorption low

HP:0000117

Related Conditions

Autosomal dominant hypophosphataemic bone disease(parent)

Rickets(parent)

Arthropathy associated with another disorder(parent)

Quick Facts

SNOMED CT: 237889002
UMLS CUI: C0342642
Fully Specified Name: Autosomal dominant hypophosphatemic rickets (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 21

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.