Multisystemic smooth muscle dysfunction syndrome

disorder

SNOMED 782724001CUI C3151201

Overview

Multisystemic smooth muscle dysfunction 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.

Dilated pupil

Always present (100%)HP:0011499

PDA

Always present (100%)HP:0001643

Thoracic aortic aneurysm

Always present (100%)HP:0012727

Dysgyria

Very frequent (80-99%)HP:0032398

Tachypnea

Very frequent (80-99%)HP:0002789

Brachiocephalic artery aneurysm

Frequent (30-79%)HP:0034324

Common carotid artery aneurysm

Frequent (30-79%)HP:0034325

Cryptorchidism

Frequent (30-79%)HP:0000028

Dilatation of the aortic arch

Frequent (30-79%)HP:0005113

Intestinal hypoperistalsis

Frequent (30-79%)HP:0100771

Intestinal malrotation

Frequent (30-79%)HP:0002566

Pulmonary artery dilatation

Frequent (30-79%)HP:0004927

Atria septal defect

Occasional (5-29%)HP:0001631

Dilated left subclavian artery

Occasional (5-29%)HP:0031252

Aneurysmal disease

HP:0002617

Cerebral artery aneurysm

HP:0004944

High blood pressure

HP:0000822

Periventricular white matter hyperintensities

HP:0030891

Primary pulmonary hypertension

HP:0002092

Retinal infarction

HP:0007866

Related Conditions

Hereditary disorder of the visual system(parent)

Autosomal dominant hereditary disorder(parent)

Disease of smooth muscle(parent)

Patent ductus arteriosus(parent)

Cardiovascular system hereditary disorder(parent)

Pupillary disorder(parent)

Developmental hereditary disorder(parent)

Anomaly of eye(parent)

Quick Facts

SNOMED CT: 782724001
UMLS CUI: C3151201
Fully Specified Name: Multisystemic smooth muscle dysfunction syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 20

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.