Adult hypophosphatasia

disorder

SNOMED 20756002CUI C0268413

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.

Increased urine O-phosphoethanolamine level

Always present (100%)HP:0003239

Abnormality of the feet

HP:0001760

Calcium deposits in joints

HP:0000934

Decreased circulating alkaline phosphatase activity

HP:0003282

Disease of the joints

HP:0003040

Increased fracture rate

HP:0002757

Increased susceptibility to fractures

HP:0002659

Osteomalacia

HP:0002749

Pathologic fracture

HP:0002756

Premature exfoliation of primary teeth

HP:0006323

Premature loss of secondary teeth

HP:0006357

Rotting teeth

HP:0000670

Weak and soft bones

HP:0002748

Related Conditions

Enzymopathy(parent)

Hypophosphatasia(parent)

Autosomal hereditary disorder(parent)

Quick Facts

SNOMED CT: 20756002
UMLS CUI: C0268413
Fully Specified Name: Adult hypophosphatasia (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 13

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.