Myelin regulatory factor-related cardiac urogenital syndrome

disorder

SNOMED 1332387008CUI C4748946

Overview

Myelin regulatory factor-related cardiac urogenital 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.

Cryptorchidism

Always present (100%)HP:0000028

Poorly developed lungs

Always present (100%)HP:0002089

Pulmonary venolobar syndrome

Always present (100%)HP:0011626

Biventricular hypertrophy

Frequent (30-79%)HP:0200128

Bronchomalacia

Frequent (30-79%)HP:0002780

Cor triatriatum sinister

Frequent (30-79%)HP:0031134

Coronary sinus enlargement

Frequent (30-79%)HP:0031298

Diaphragmatic hernia

Frequent (30-79%)HP:0000776

Enlarged kidney

Frequent (30-79%)HP:0000105

Floppy windpipe

Frequent (30-79%)HP:0002779

Hepatopulmonary fusion

Frequent (30-79%)HP:0410259

Increased bleeding time

Frequent (30-79%)HP:0003010

Increased width of bridge of nose

Frequent (30-79%)HP:0000431

Interrupted aortic arch

Frequent (30-79%)HP:0011611

Intestinal malrotation

Frequent (30-79%)HP:0002566

Mesocardia

Frequent (30-79%)HP:0011599

PAPVR

Frequent (30-79%)HP:0010773

partial or complete syndactyly 2nd-3rd toes

Frequent (30-79%)HP:0004691

PDA

Frequent (30-79%)HP:0001643

Penoscrotal hypospadias

Frequent (30-79%)HP:0000808

Pericardial effusions

Frequent (30-79%)HP:0001698

Persistent urachus

Frequent (30-79%)HP:0010479

Racing heart

Frequent (30-79%)HP:0001649

Short penis

Frequent (30-79%)HP:0000054

Unilateral cryptorchidism

Frequent (30-79%)HP:0012741

VSD

Frequent (30-79%)HP:0001629

Low intelligence

Very rare (1-4%)HP:0001249

No development of motor milestones

Very rare (1-4%)HP:0001270

Accessory spleen

HP:0001747

Ambiguous external genitalia

HP:0000062

Related Conditions

Autosomal dominant hereditary disorder(parent)

Congenital heart disease(parent)

Genitourinary congenital anomalies(parent)

Cardiovascular system hereditary disorder(parent)

Developmental hereditary disorder(parent)

Multiple system malformation syndrome(parent)

Quick Facts

SNOMED CT: 1332387008
UMLS CUI: C4748946
Fully Specified Name: Cardiac urogenital syndrome (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.