Hereditary protein C deficiency

disorder

SNOMED 439274008CUI C0598221

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.

Aplasia/Hypoplasia of the skin

Frequent (30-79%)HP:0008065

Blood clot in vein

Frequent (30-79%)HP:0004936

Red or purple spots on the skin

Frequent (30-79%)HP:0000979

Thin skin

Frequent (30-79%)HP:0000963

Abnormal skin colour

Occasional (5-29%)HP:0001000

Abnormality of the cerebral blood vessels

Occasional (5-29%)HP:0100659

Blood clot in artery of lung

Occasional (5-29%)HP:0002204

Death of body tissue due to lack of blood flow or infection

Occasional (5-29%)HP:0100758

Venous insufficiency

Occasional (5-29%)HP:0005293

Warfarin-induced skin necrosis

Occasional (5-29%)HP:0001038

Related Conditions

Heterozygous protein C deficiency(child)

Homozygous protein C deficiency(child)

Protein C deficiency disease(parent)

Hereditary thrombophilia(parent)

Quick Facts

SNOMED CT: 439274008
UMLS CUI: C0598221
Fully Specified Name: Hereditary protein C deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 10

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.