Achalasia microcephaly syndrome

disorder

SNOMED 718573009CUI C1860212

Overview

Achalasia microcephaly 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 dermatoglyphics

Very frequent (80-99%)HP:0007477

Achalasia

Very frequent (80-99%)HP:0002571

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Dull intelligence

Very frequent (80-99%)HP:0001249

Large nose

Very frequent (80-99%)HP:0000448

Mandibular hyperplasia

Very frequent (80-99%)HP:0000303

Retarded growth

Very frequent (80-99%)HP:0001510

Decreased projection of mandible

Occasional (5-29%)HP:0000347

Large ears

Occasional (5-29%)HP:0000400

Palpebronasal fold

Occasional (5-29%)HP:0000286

Esotropia

Very rare (1-4%)HP:0000565

Hirsutism

Very rare (1-4%)HP:0001007

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Digestive system hereditary disorder(parent)

Congenital achalasia of esophagus(parent)

Developmental hereditary disorder(parent)

Congenital microcephalus(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 718573009
UMLS CUI: C1860212
Fully Specified Name: Achalasia microcephaly syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 12

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.