Familial cutaneous collagenoma

disorder

SNOMED 239139000CUI C0406817

Overview

Familial cutaneous collagenoma 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.

Growth of abnormal tissue on or under the skin

Very frequent (80-99%)HP:0200036

Papules

Very frequent (80-99%)HP:0200034

Abnormal skin colour

Frequent (30-79%)HP:0001000

Angina pectoris

Occasional (5-29%)HP:0001681

Atria septal defect

Occasional (5-29%)HP:0001631

Disease of the heart muscle

Occasional (5-29%)HP:0001638

Heart failure

Occasional (5-29%)HP:0001635

Cardiomyopathy, esp. right ventricular

HP:0011663

Collagenoma

HP:6000022

Congenital posterior occipital alopecia

HP:0007534

Inflammation of blood vessel

HP:0002633

Iris atrophy

HP:0001089

Primary testicular failure

HP:0008720

Quivering upper heart chambers resulting in irregular heartbeat

HP:0005110

Sensorineural deafness

HP:0000407

Tricuspid regurgitation

HP:0005180

Related Conditions

Connective tissue naevus of skin(parent)

Autosomal dominant hereditary disorder(parent)

Hereditary disorder of the integument(parent)

Quick Facts

SNOMED CT: 239139000
UMLS CUI: C0406817
Fully Specified Name: Familial cutaneous collagenoma (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 16

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.