Overview
Deafness, vitiligo, achalasia 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.
Achalasia
Very frequent (80-99%)HP:0002571
Electroencephalogram abnormal
Very frequent (80-99%)HP:0002353
Hypopigmented skin patches
Very frequent (80-99%)HP:0001053
Neurogenic muscle atrophy, especially in the lower limbs
Very frequent (80-99%)HP:0003202
Sensorineural deafness
Very frequent (80-99%)HP:0000407
Short stature, severe
Very frequent (80-99%)HP:0003510
Related Conditions
Congenital deficiency of pigment of skin(parent)
Vitiligo(parent)
Multiple system malformation syndrome(parent)
Recessive hereditary disorder (autosomal)(parent)
Congenital deafness(parent)
Hearing loss associated with syndrome(parent)
Small stature(parent)
Digestive system hereditary disorder(parent)
Congenital achalasia of esophagus(parent)
Genetic disorder of skin pigmentation(parent)
Congenital anomaly of ear with impairment of hearing(parent)
Congenital anomaly of inner ear(parent)
Developmental hereditary disorder(parent)
Hereditary disorder of the integument(parent)
Hereditary hearing loss(parent)
Quick Facts
- SNOMED CT
- 733069009
- UMLS CUI
- C4518568
- Fully Specified Name
- Deafness, vitiligo, achalasia syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 6
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.