Vitamin D-dependent rickets, type 2

disorder

SNOMED 72831007CUI C3536983

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Treatments & Interventions

Vitamin D>3<

substance

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Alopecia universalis

Always present (100%)HP:0002289

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

Abnormal bone structure

Very frequent (80-99%)HP:0003330

Bone cyst

Very frequent (80-99%)HP:0012062

Bone pain

Very frequent (80-99%)HP:0002653

Breakdown of bone

Very frequent (80-99%)HP:0002797

Coarse metaphyseal trabecularization

Very frequent (80-99%)HP:0100670

Hyperparathyroidism

Very frequent (80-99%)HP:0000843

Hypophosphataemia

Very frequent (80-99%)HP:0002148

Joint dislocation

Very frequent (80-99%)HP:0001373

Low blood calcium levels

Very frequent (80-99%)HP:0002901

Osteomalacia

Very frequent (80-99%)HP:0002749

Varying degree of multiple fractures

Very frequent (80-99%)HP:0002757

Abnormal metaphysis morphology

Frequent (30-79%)HP:0000944

Abnormal vertebral bodies

Frequent (30-79%)HP:0003312

Abnormality of adipose tissue

Frequent (30-79%)HP:0009124

Abnormality of the chest

Frequent (30-79%)HP:0000765

Abnormality of the hips

Frequent (30-79%)HP:0003272

Decreased body height

Frequent (30-79%)HP:0004322

Dermatopathy

Frequent (30-79%)HP:0000951

Dolichocephaly

Frequent (30-79%)HP:0000268

Gait disturbance

Frequent (30-79%)HP:0001288

Genua vara

Frequent (30-79%)HP:0002970

Hair loss

Frequent (30-79%)HP:0001596

Kidney stones

Frequent (30-79%)HP:0000787

Premature exfoliation of primary teeth

Frequent (30-79%)HP:0006323

Cobb angle greater than ten degrees

Occasional (5-29%)HP:0002650

Related Conditions

Vitamin D-dependent rickets type II with alopecia(child)

VDDR IIb - Vitamin D-dependent rickets IIb(child)

Vitamin D-dependent rickets(parent)

Congenital disease(parent)

Quick Facts

SNOMED CT: 72831007
UMLS CUI: C3536983
Fully Specified Name: Vitamin D-dependent rickets, type 2 (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30
Known Treatments: 1

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.