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Vitamin D-dependent rickets type II with alopecia
disorderSNOMED 237894002CUI C0342646
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Alopecia universalis
Always present (100%)HP:0002289
Frontal protuberance
Always present (100%)HP:0002007
Hearing impairment
Always present (100%)HP:0000365
Increased width of bridge of nose
Always present (100%)HP:0000431
Palpebronasal fold
Always present (100%)HP:0000286
Weak and soft bones
Always present (100%)HP:0002748
Abdominal protuberance
HP:0001538
Bone pain
HP:0002653
Bowed femura
HP:0002980
Bowed lower limbs
HP:0002979
Bulging epiphyses
HP:0003013
Bulging of the costochondral junction
HP:0000893
Deformed rib cage
HP:0000886
Delayed eruption of teeth
HP:0000684
Dermatopathy
HP:0000951
Elevated alkaline phosphatase
HP:0003155
Enlargement of the ankles
HP:0003029
Enlargement of the wrists
HP:0003020
Epiphyseal ossification delay
HP:0002663
Fibular bowing
HP:0010502
Gait disturbance
HP:0001288
Generalised decreased muscle tone
HP:0001290
Hypophosphataemia
HP:0002148
Increased fracture rate
HP:0002757
Increased serum calcitriol
HP:0031415
Increased serum parathyroid hormone
HP:0003165
Irregular metaphyses
HP:0003025
Irritable mood
HP:0000737
Lax abdominal musculature
HP:0009023
Muscular hypotonia
HP:0001252
Related Conditions
Quick Facts
- SNOMED CT
- 237894002
- UMLS CUI
- C0342646
- Fully Specified Name
- Vitamin D-dependent rickets type II with alopecia (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.