Hereditary protein S deficiency

disorder

SNOMED 439702007CUI C2584611

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.

Blood spots

Very frequent (80-99%)HP:0000979

Aplasia/Hypoplasia of the skin

Frequent (30-79%)HP:0008065

Bleeding below the skin

Frequent (30-79%)HP:0001933

Deep venous thrombosis

Frequent (30-79%)HP:0002625

Noninflammatory retina disease

Frequent (30-79%)HP:0000488

Thin skin

Frequent (30-79%)HP:0000963

Thrombophlebitis

Frequent (30-79%)HP:0004418

Abnormal skin colour

Occasional (5-29%)HP:0001000

Abnormality of the cerebral blood vessels

Occasional (5-29%)HP:0100659

Blood clot in artery

Occasional (5-29%)HP:0004420

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

Open skin sore

Occasional (5-29%)HP:0200042

Venous insufficiency

Occasional (5-29%)HP:0005293

Related Conditions

Homozygous protein S deficiency(child)

Heterozygous protein S deficiency(child)

Hereditary thrombophilia(parent)

Protein S deficiency disease(parent)

Quick Facts

SNOMED CT: 439702007
UMLS CUI: C2584611
Fully Specified Name: Hereditary protein S deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 14

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.