Autosomal recessive hypophosphatemic vitamin D refractory rickets

disorder

SNOMED 90505000CUI C0342643

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.

Hypophosphatemic rickets

Always present (100%)HP:0004912

Abnormality of bone trabeculation

Very frequent (80-99%)HP:0100671

Abnormality of renal excretion

Very frequent (80-99%)HP:0011036

Abnormality of the lower limb

Very frequent (80-99%)HP:0002814

Abnormality of vitamin D metabolism

Very frequent (80-99%)HP:0100511

Bone pain

Very frequent (80-99%)HP:0002653

Coxa vara

Very frequent (80-99%)HP:0002812

Decreased body height

Very frequent (80-99%)HP:0004322

Delayed eruption of teeth

Very frequent (80-99%)HP:0000684

Distal femoral bowing

Very frequent (80-99%)HP:0005096

Elevated alkaline phosphatase of bone origin

Very frequent (80-99%)HP:0010639

Enlargement of the wrists

Very frequent (80-99%)HP:0003020

Genua vara

Very frequent (80-99%)HP:0002970

Hyperphosphaturia

Very frequent (80-99%)HP:0003109

Increased bone mineral density

Very frequent (80-99%)HP:0011001

Left and right leg differ in length or width

Very frequent (80-99%)HP:0100559

Low serum 1,25-dihydroxyvitamin D3

Very frequent (80-99%)HP:0012052

Osteomalacia

Very frequent (80-99%)HP:0002749

Polyarticular arthritis

Very frequent (80-99%)HP:0005764

Renal hypophosphatemia

Very frequent (80-99%)HP:0008732

Retarded growth

Very frequent (80-99%)HP:0001510

Rickets of the lower limbs

Very frequent (80-99%)HP:0006463

Sclerotic vertebral endplates

Very frequent (80-99%)HP:0004576

Sensorineural deafness

Very frequent (80-99%)HP:0000407

Skeletal dysplasia

Very frequent (80-99%)HP:0002652

Tubular phosphate reabsorption low

Very frequent (80-99%)HP:0000117

Abnormal sacroiliac joint morphology

Frequent (30-79%)HP:0100781

Deformity of the skull

Frequent (30-79%)HP:0001363

Inflammation of sharpey fibres

Frequent (30-79%)HP:0100686

Intestinal malabsorption

Frequent (30-79%)HP:0002024

Related Conditions

Rickets(parent)

Autosomal recessive hypophosphatemic bone disease(parent)

Quick Facts

SNOMED CT: 90505000
UMLS CUI: C0342643
Fully Specified Name: Autosomal recessive hypophosphatemic vitamin D refractory rickets (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.