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Retinal detachment and occipital encephalocele
disorderSNOMED 703542000CUI C1849409
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Absence of the septum pellucidum
Always present (100%)HP:0001331
Ataxia
Always present (100%)HP:0001251
Bulging forehead
Always present (100%)HP:0011220
Chorioretinal atrophy
Always present (100%)HP:0000533
Decreased size of cranium
Always present (100%)HP:0000252
Decreased transverse dimension of face
Always present (100%)HP:0000275
Degeneration of cerebrum
Always present (100%)HP:0002059
Dull intelligence
Always present (100%)HP:0001249
Gaze-evoked nystagmus
Always present (100%)HP:0000640
Glaucoma
Always present (100%)HP:0000501
Infratentorial atrophy
Always present (100%)HP:0001272
Lack of eyebrow curvature
Always present (100%)HP:0011228
Macular hypoplasia
Always present (100%)HP:0001104
Myoclonic seizure
Always present (100%)HP:0032794
Narrow forehead
Always present (100%)HP:0000341
Occipital meningocele
Always present (100%)HP:0002436
Peripapillary atrophy
Always present (100%)HP:0500087
Poor vision
Always present (100%)HP:0000505
Potato nose
Always present (100%)HP:0000414
Attenuation of retinal blood vessels
Very frequent (80-99%)HP:0007843
Calvarial defect
Very frequent (80-99%)HP:0001362
Near sighted
Very frequent (80-99%)HP:0000545
Pigmented macular degeneration
Very frequent (80-99%)HP:0000608
Posterior encephalocele
Very frequent (80-99%)HP:0002085
Retinal detachment
Very frequent (80-99%)HP:0000541
Severe myopia
Very frequent (80-99%)HP:0011003
Abnormal vitreous humor morphology
Frequent (30-79%)HP:0004327
Band keratopathy
Frequent (30-79%)HP:0000585
Congenital cataracts, bilateral
Frequent (30-79%)HP:0000519
Cortical cataract
Frequent (30-79%)HP:0100019
Related Conditions
Connective tissue hereditary disorder(parent)
Vitreoretinal degeneration(parent)
Hereditary disorder of the visual system(parent)
Hereditary disorder of musculoskeletal system(parent)
Occipital encephalocele(parent)
Hereditary disorder of nervous system(parent)
Recessive hereditary disorder (autosomal)(parent)
Degenerative disorder of macula(parent)
Musculoskeletal and connective tissue disorder(parent)
Developmental hereditary disorder(parent)
Quick Facts
- SNOMED CT
- 703542000
- UMLS CUI
- C1849409
- Fully Specified Name
- Retinal detachment and occipital encephalocele (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
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.