Hereditary combined deficiency of vitamin K-dependent clotting factors

disorder

SNOMED 724356003CUI C4510617

Overview

Hereditary combined deficiency of vitamin K-dependent clotting factors is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

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

Bleeding tendency

Frequent (30-79%)HP:0001892

Bruising susceptibility

Frequent (30-79%)HP:0000978

Decreased level of heparin co-factor II

Frequent (30-79%)HP:0040226

Low factor II activity

Frequent (30-79%)HP:0008151

Prolonged activated partial thromboplastin time

Frequent (30-79%)HP:0003645

Protein C deficiency

Frequent (30-79%)HP:0005543

Protein S deficiency

Frequent (30-79%)HP:0004855

Reduced factor IX activity

Frequent (30-79%)HP:0011858

Reduced factor VII activity

Frequent (30-79%)HP:0008169

Reduced factor X activity

Frequent (30-79%)HP:0008321

Cephalohematoma

Occasional (5-29%)HP:0012541

Ecchymosis

Occasional (5-29%)HP:0031364

Frequent nosebleeds

Occasional (5-29%)HP:0000421

Hypermenorrhea

Occasional (5-29%)HP:0000132

Hypotrophic nasal bone

Occasional (5-29%)HP:0004646

Intracranial haemorrhage

Occasional (5-29%)HP:0002170

Joint hemorrhage

Occasional (5-29%)HP:0005261

Knapp streaks

Occasional (5-29%)HP:0001102

Loose skin

Occasional (5-29%)HP:0000973

Osteoporosis

Occasional (5-29%)HP:0000939

Plaque build-up in arteries

Occasional (5-29%)HP:0002621

Post-partum hemorrhage

Occasional (5-29%)HP:0011891

Prolonged bleeding following circumcision

Occasional (5-29%)HP:0030137

Prolonged bleeding following procedure

Occasional (5-29%)HP:0011890

Shortening of all outermost bones of the fingers

Occasional (5-29%)HP:0006118

Stippling of the epiphyses

Occasional (5-29%)HP:0010655

Abnormal umbilical stump bleeding

Very rare (1-4%)HP:0011884

Atria septal defect

Very rare (1-4%)HP:0001631

Gastrointestinal haemorrhage

Very rare (1-4%)HP:0002239

Pulmonary artery stenosis

Very rare (1-4%)HP:0004415

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Inborn error of metabolism(parent)

Hereditary combined coagulation factor deficiency(parent)

Quick Facts

SNOMED CT: 724356003
UMLS CUI: C4510617
Fully Specified Name: Hereditary combined deficiency of vitamin K-dependent clotting factors (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.