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Hyperphosphatasemia with bone disease

disorder
SNOMED 9723006CUI C0268414

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.

Delayed gross motor development
Always present (100%)HP:0002194
Elevated alkaline phosphatase
Always present (100%)HP:0003155
Humeral hypoplasia
Always present (100%)HP:0005792
Hypercalciuria
Always present (100%)HP:0002150
Increased urine deoxypyridinoline level
Always present (100%)HP:0033355
Lateral femoral bowing
Always present (100%)HP:0005090
Muscular hypotonia
Always present (100%)HP:0001252
Osteopenia
Always present (100%)HP:0000938
Postnatal failure to thrive
Always present (100%)HP:0001508
Relatively large head
Always present (100%)HP:0004482
Abnormal clavicles
Very frequent (80-99%)HP:0000889
Big calvaria
Very frequent (80-99%)HP:0000256
Coarse metaphyseal trabecularization
Very frequent (80-99%)HP:0100670
Decreased body height
Very frequent (80-99%)HP:0004322
Dental problems
Very frequent (80-99%)HP:0000164
Hypertrophy of cranial bones
Very frequent (80-99%)HP:0004437
Hyperuricaemia
Very frequent (80-99%)HP:0002149
Osteoporosis
Very frequent (80-99%)HP:0000939
Deafness
Frequent (30-79%)HP:0000365
High blood pressure
Frequent (30-79%)HP:0000822
Optic atrophy
Frequent (30-79%)HP:0000648
Pectus carinatum
Frequent (30-79%)HP:0000768
Retinal pigmentary anomaly
Frequent (30-79%)HP:0007703
Macular scar
Occasional (5-29%)HP:0200056
No development of motor milestones
Occasional (5-29%)HP:0001270
Noncancerous mole
Occasional (5-29%)HP:0000995
Noninflammatory retina disease
Occasional (5-29%)HP:0000488
Retinal degeneration
Occasional (5-29%)HP:0000546
Subcutaneous nodule
Occasional (5-29%)HP:0001482
Ankylosis
HP:0031013

Related Conditions

Disorder of phosphate, calcium and vitamin D metabolism(parent)
Dysplasia with increased bone density(parent)
Metabolic bone disease(parent)
Hypertrophy of bone(parent)
Congenital anomaly of skeletal bone(parent)

Quick Facts

SNOMED CT
9723006
UMLS CUI
C0268414
Fully Specified Name
Hyperphosphatasemia with 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.