X-linked diffuse leiomyomatosis with Alport syndrome

disorder

SNOMED 726106004CUI C4511693

Overview

X-linked diffuse leiomyomatosis with Alport 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 gastrointestinal tract morphology

Very frequent (80-99%)HP:0012718

Abnormal oesophagus morphology

Very frequent (80-99%)HP:0002031

Deglutition disorder

Very frequent (80-99%)HP:0002015

Esophageal tumor

Very frequent (80-99%)HP:0100751

Abnormal eye

Frequent (30-79%)HP:0000478

Abnormality of the female genitalia

Frequent (30-79%)HP:0010460

Achalasia

Frequent (30-79%)HP:0002571

Chest pain

Frequent (30-79%)HP:0100749

Diffuse leiomyomatosis

Frequent (30-79%)HP:0006756

Dyspepsia

Frequent (30-79%)HP:0410281

Gastro-esophageal reflux

Frequent (30-79%)HP:0002020

High urine occult blood

Frequent (30-79%)HP:0000790

Intestinal hypoperistalsis

Frequent (30-79%)HP:0100771

Kidney damage

Frequent (30-79%)HP:0000112

Lens opacities

Frequent (30-79%)HP:0000518

Postnatal failure to thrive

Frequent (30-79%)HP:0001508

Progressive renal failure

Frequent (30-79%)HP:0012622

Proteinuria

Frequent (30-79%)HP:0000093

Sensorineural deafness

Frequent (30-79%)HP:0000407

Smooth muscle antibody positive

Frequent (30-79%)HP:0003262

Vomiting

Frequent (30-79%)HP:0002013

Abnormal respiratory system morphology

Occasional (5-29%)HP:0012252

Anterior lenticonus

Occasional (5-29%)HP:0011501

Aspiration pneumonia

Occasional (5-29%)HP:0011951

Corneal inflammation

Occasional (5-29%)HP:0000491

Coughing

Occasional (5-29%)HP:0012735

End-stage renal disease

Occasional (5-29%)HP:0003774

Fibroma

Occasional (5-29%)HP:0010614

Narrowing of the esophagus

Occasional (5-29%)HP:0010450

Nasogastric tube feeding

Occasional (5-29%)HP:0040288

Related Conditions

Anomaly of chromosome X(parent)

Neoplastic disease of uncertain behavior(parent)

Congenital nephritis(parent)

Alport syndrome X-linked(parent)

Quick Facts

SNOMED CT: 726106004
UMLS CUI: C4511693
Fully Specified Name: X-linked diffuse leiomyomatosis with Alport 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.