Lamin A/C related cardiocutaneous progeria syndrome

disorder

SNOMED 773426004CUI C4750858

Overview

Lamin A/C related cardiocutaneous progeria syndrome 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.

Abnormal intrahepatic bile duct morphology

Very frequent (80-99%)HP:0011040

Abnormality of lung artery

Very frequent (80-99%)HP:0004414

Absent eyebrows

Very frequent (80-99%)HP:0002223

Alopecia universalis

Very frequent (80-99%)HP:0002289

Aortic stenosis

Very frequent (80-99%)HP:0001650

Aplasia of eyelashes

Very frequent (80-99%)HP:0000561

Atherosclerosis of the aorta

Very frequent (80-99%)HP:0012397

Atrophy of fat

Very frequent (80-99%)HP:0100578

Basal cell carcinoma

Very frequent (80-99%)HP:0002671

Chronic heart failure

Very frequent (80-99%)HP:0001635

Coronary disease

Very frequent (80-99%)HP:0001677

Elevated serum cholesterol

Very frequent (80-99%)HP:0003124

High blood pressure

Very frequent (80-99%)HP:0000822

Increased aortic root diameter

Very frequent (80-99%)HP:0002616

Increased triglycerides

Very frequent (80-99%)HP:0002155

Intracranial haemorrhage

Very frequent (80-99%)HP:0002170

Mitral regurgitation

Very frequent (80-99%)HP:0001653

Mitral valve calcification

Very frequent (80-99%)HP:0004382

Papillary renal cell carcinoma

Very frequent (80-99%)HP:0006766

Premature graying of the hair

Very frequent (80-99%)HP:0002216

Premature skin wrinkling

Very frequent (80-99%)HP:0100678

Pseudoscleroderma

Very frequent (80-99%)HP:0100324

Pulmonary carcinoid tumour

Very frequent (80-99%)HP:0030445

Pulmonary emphysema

Very frequent (80-99%)HP:0002097

Squamous skin carcinoma

Very frequent (80-99%)HP:0006739

Thin, sparse hair

Very frequent (80-99%)HP:0008070

Ventricular hypertrophy

Very frequent (80-99%)HP:0001714

Related Conditions

Autosomal dominant hereditary disorder(parent)

Hereditary neoplastic syndrome(parent)

Cardiovascular system hereditary disorder(parent)

Laminopathy with premature aging(parent)

Quick Facts

SNOMED CT: 773426004
UMLS CUI: C4750858
Fully Specified Name: Lamin A/C related cardiocutaneous progeria syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 27

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.