Familial x-linked hypophosphatemic vitamin D refractory rickets

disorder

SNOMED 82236004CUI C1704375

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.

Bowed femura

Always present (100%)HP:0002980

Bowed lower limbs

Always present (100%)HP:0002979

Cupped metaphysis of hand bones

Always present (100%)HP:0004273

Delayed ability to walk

Always present (100%)HP:0031936

Delayed gross motor development

Always present (100%)HP:0002194

Elevated alkaline phosphatase

Always present (100%)HP:0003155

Frontal protuberance

Always present (100%)HP:0002007

Genu valga

Always present (100%)HP:0002857

Hepatosplenomegaly

Always present (100%)HP:0001433

Hypophosphataemia

Always present (100%)HP:0002148

Hypophosphatemic rickets

Always present (100%)HP:0004912

Rachitic rosary

Always present (100%)HP:0000897

Tibial bowing

Always present (100%)HP:0002982

Waddling gait

Always present (100%)HP:0002515

Weak and soft bones

Always present (100%)HP:0002748

Abnormal circulating calcium concentration

Frequent (30-79%)HP:0004363

Abnormality of pelvic girdle bone morphology

HP:0002644

Arthritic pain

HP:0002829

Bone pain

HP:0002653

Decreased body height

HP:0004322

Fibular bowing

HP:0010502

Flattening of the talar dome

HP:0008144

Increased serum parathyroid hormone

HP:0003165

Irregular metaphyses

HP:0003025

Osteoarthritis

HP:0002758

Osteomalacia

HP:0002749

Renal tubular defect

HP:0000124

Shortening of the talar neck

HP:0008117

Spinal cord compression

HP:0002176

Spinal stenosis

HP:0003416

Related Conditions

Hypophosphataemic rickets with nephrotic-glycosuric dwarfism(child)

Rickets(parent)

Hypophosphatemia(parent)

Dysplasia with defective mineralization(parent)

Hereditary disorder of musculoskeletal system(parent)

X-linked hereditary disease(parent)

Lesion of bone(parent)

Developmental hereditary disorder(parent)

Arthropathy associated with another disorder(parent)

Quick Facts

SNOMED CT: 82236004
UMLS CUI: C1704375
Fully Specified Name: Familial x-linked 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.