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Familial x-linked hypophosphatemic vitamin D refractory rickets
disorderSNOMED 82236004CUI C1704375
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.