Eye defects, arachnodactyly, cardiopathy syndrome

disorder

SNOMED 1208342001CUI C1836121

Overview

Eye defects, arachnodactyly, cardiopathy 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.

Bilateral clubfeet

Always present (100%)HP:0001776

Broad distal phalanx of finger

Always present (100%)HP:0009836

Decreased projection of mandible

Always present (100%)HP:0000347

Flat midface

Always present (100%)HP:0011800

Gastro-jejunal tube feeding in infancy

Always present (100%)HP:0030884

Hardening of skin and connective tissue

Always present (100%)HP:0000647

Humeral bowing

Always present (100%)HP:0003865

Hydronephrosis

Always present (100%)HP:0000126

Increased amniotic fluid index

Always present (100%)HP:0001561

Increased fracture rate

Always present (100%)HP:0002757

Osteopenia

Always present (100%)HP:0000938

Pneumonia, recurrent

Always present (100%)HP:0006532

Proximal radio-ulnar synostosis

Always present (100%)HP:0005037

Scarring or clouding of the cornea of the eye

Always present (100%)HP:0007957

Undergrowth

Always present (100%)HP:0001508

Wrist contracture

Always present (100%)HP:0001239

Related Conditions

Dysostosis(parent)

Multiple malformation syndrome with facial-limb defects as major feature(parent)

Cardiovascular system hereditary disorder(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

Hereditary disorder of the visual system(parent)

Congenital anomaly of anterior segment of eye(parent)

Heart disease(parent)

Congenital cardiovascular disorder(parent)

Recessive hereditary disorder (autosomal)(parent)

Congenital dysplasia of limb(parent)

Abnormality of limb bone morphology(parent)

Quick Facts

SNOMED CT: 1208342001
UMLS CUI: C1836121
Fully Specified Name: Eye defects, arachnodactyly, cardiopathy syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 16

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.