Autosomal recessive hypophosphatemic bone disease

disorder

SNOMED 237891005CUI C1853271

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.

Elevated alkaline phosphatase

Always present (100%)HP:0003155

Tubular phosphate reabsorption low

Always present (100%)HP:0000117

Decreased serum PTH

Very frequent (80-99%)HP:0031817

Elevated alkaline phosphatase of bone origin

Very frequent (80-99%)HP:0010639

Hypercalciuria

Very frequent (80-99%)HP:0002150

Hyperphosphaturia

Very frequent (80-99%)HP:0003109

Hypophosphataemia

Very frequent (80-99%)HP:0002148

Hypophosphatemic rickets

Very frequent (80-99%)HP:0004912

Increased circulating beta-C-terminal telopeptide concentration

Very frequent (80-99%)HP:0031425

Increased circulating osteocalcin level

Very frequent (80-99%)HP:0031428

Increased serum calcitriol

Very frequent (80-99%)HP:0031415

Bone pain

Frequent (30-79%)HP:0002653

Decreased bone mineral density Z score

Frequent (30-79%)HP:0004349

Kidney stones

Frequent (30-79%)HP:0000787

Medullary nephrocalcinosis

Frequent (30-79%)HP:0012408

Osteomalacia

Frequent (30-79%)HP:0002749

Skeletal anomalies

Frequent (30-79%)HP:0000924

Bowed lower limbs

Occasional (5-29%)HP:0002979

Decreased body height

Occasional (5-29%)HP:0004322

Pathologic fracture

Occasional (5-29%)HP:0002756

Rachitic rosary

Occasional (5-29%)HP:0000897

Waddling gait

Occasional (5-29%)HP:0002515

Abnormal circulating calcium concentration

Excluded (<1%)HP:0004363

Bowed femura

HP:0002980

Bulging epiphyses

HP:0003013

Bulging of the costochondral junction

HP:0000893

Calcium nephrolithiasis

HP:0004724

Deformed rib cage

HP:0000886

Enlargement of the ankles

HP:0003029

Enlargement of the wrists

HP:0003020

Related Conditions

Autosomal recessive hypophosphatemic vitamin D refractory rickets(child)

Hereditary hypophosphatemic rickets with hypercalciuria(child)

Disorder with defective osteoid mineralization(parent)

Hereditary disorder of musculoskeletal system(parent)

Recessive hereditary disorder (autosomal)(parent)

Hypophosphatemia(parent)

Quick Facts

SNOMED CT: 237891005
UMLS CUI: C1853271
Fully Specified Name: Autosomal recessive hypophosphatemic bone disease (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.