Moyamoya disease with early onset achalasia

disorder

SNOMED 718551002CUI C4305378

Overview

Moyamoya disease with early onset achalasia 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.

Cerebral vascular events

Always present (100%)HP:0001297

Abnormality of the cerebral blood vessels

Frequent (30-79%)HP:0100659

High blood pressure

Frequent (30-79%)HP:0000822

Moyamoya phenomenon

Frequent (30-79%)HP:0011834

Abnormal platelet aggregation

Occasional (5-29%)HP:0030402

Cutis marmorata

Occasional (5-29%)HP:0000965

Low platelet count

Occasional (5-29%)HP:0001873

Raynaud disease

Occasional (5-29%)HP:0030880

Related Conditions

Achalasia of esophagus(parent)

Moyamoya disease(parent)

Recessive hereditary disorder (autosomal)(parent)

Cardiovascular system hereditary disorder(parent)

Digestive system hereditary disorder(parent)

Hereditary disorder of nervous system(parent)

Quick Facts

SNOMED CT: 718551002
UMLS CUI: C4305378
Fully Specified Name: Moyamoya disease with early onset achalasia (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 8

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.