Aplasia cutis with myopia syndrome

disorder

SNOMED 720499004CUI C4304032

Overview

Aplasia cutis with myopia 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.

Abnormality of RPE

Very frequent (80-99%)HP:0007703

Congenital nystagmus

Very frequent (80-99%)HP:0006934

Congenital scars

Very frequent (80-99%)HP:0001057

Severe myopia

Very frequent (80-99%)HP:0011003

Skull defect

Very frequent (80-99%)HP:0001362

Abnormal shape of nervous system

Occasional (5-29%)HP:0012639

Bleeding tendency

Occasional (5-29%)HP:0001892

Haemorrhagic disorders

Occasional (5-29%)HP:0001928

Meningitis

Occasional (5-29%)HP:0001287

Open skin sore

Occasional (5-29%)HP:0200042

Skeletal anomalies

Occasional (5-29%)HP:0000924

Related Conditions

Severe myopia(parent)

Aplasia cutis congenita(parent)

Multiple system malformation syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of the integument(parent)

Hereditary disorder of the visual system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 720499004
UMLS CUI: C4304032
Fully Specified Name: Aplasia cutis with myopia syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 11

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.