Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Nonsyndromal hydrocephalus
Very frequent (80-99%)HP:0000238
Abnormal cortical gyration
Frequent (30-79%)HP:0002536
Bulbous nose
Frequent (30-79%)HP:0000414
Colpocephaly
Frequent (30-79%)HP:0030048
Decreased volume of cerebral cortex
Frequent (30-79%)HP:0002472
Delayed motor milestones
Frequent (30-79%)HP:0001270
Dilated cerebral ventricle
Frequent (30-79%)HP:0002119
Down-slanting palpebral fissure
Frequent (30-79%)HP:0000494
Frontal protuberance
Frequent (30-79%)HP:0002007
Increased size of skull
Frequent (30-79%)HP:0000256
Iris coloboma
Frequent (30-79%)HP:0000612
Mental deficiency
Frequent (30-79%)HP:0001249
Posteriorly angulated ears
Frequent (30-79%)HP:0000358
Seizures
Frequent (30-79%)HP:0001250
Squint
Frequent (30-79%)HP:0000486
Unbalanced face
Frequent (30-79%)HP:0000324
Cardiac anomaly
Very rare (1-4%)HP:0001627
Fewer or absent grooves in brain
Very rare (1-4%)HP:0001339
Macular hypoplasia
Very rare (1-4%)HP:0001104
Optic atrophy
Very rare (1-4%)HP:0000648
Sensorineural deafness
Very rare (1-4%)HP:0000407
Related Conditions
Dandy-Walker syndrome(child)
Spina bifida with hydrocephalus(child)
Cerebellum agenesis with hydrocephaly(child)
Growth delay with hydrocephalus and lung hypoplasia syndrome(child)
Vertebral abnormality, anal atresia, cardiac abnormality, tracheo-esophageal fistula, renal anomaly, limb defect syndrome with hydrocephalus(child)
Capra DeMarco syndrome(child)
Hydrocephalus with endocardial fibroelastosis and cataract syndrome(child)
Hydrocephalus, cardiac malformation, dense bone syndrome(child)
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome(child)
Sengers Hamel Otten syndrome(child)
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome(child)
Hydrocephalus, tall stature, joint laxity syndrome(child)
Congenital obstructive hydrocephalus(child)
Hydrocephalus, blue sclera, nephropathy syndrome(child)
Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome(child)
Hydrocephalus associated with congenital aqueduct stenosis(child)
Communicating hydrocephalus co-occurrent and due to congenital agenesis of arachnoid villi(child)
Thoracic dysplasia and hydrocephalus syndrome(child)
Port-wine nevi, mega cisterna magna, hydrocephalus syndrome(child)
Palmer Pagon syndrome(child)
Quick Facts
- SNOMED CT
- 47032000
- UMLS CUI
- C0020256
- Fully Specified Name
- Congenital hydrocephalus (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 21
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.