01
CEP55
No data
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Hydranencephaly
- Standard Disease Name
- hydranencephaly
- MeSH Tree
- No data
- ICD-10
- Q04.3
Identifiers
- DO ID
- No data
- MeSH ID
- D006832
- OMIM ID
- MTHU037416
- UMLS ID
- C0020225
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:A rare congenital brain disorder in which the cerebral hemispheres are absent and replaced by sacs that contain cerebrospinal fluid. Signs and symptoms include irritability, increased muscle tone, seizures, and hydrocephalus. The prognosis is poor.|MSH2017_2016_08_12:A congenital condition where the greater portions of the cerebral hemispheres and CORPUS STRIATUM are replaced by CSF and glial tissue. The meninges and the skull are well formed, which is consistent with earlier normal embryogenesis of the telencephalon. Bilateral occlusions of the internal carotid arteries in utero is a potential mechanism. Clinical features include intact brainstem reflexes without evidence of higher cortical activity. (Menkes, Textbook of Child Neurology, 5th ed, p307)|HPO2016_07_04:A defect of development of the brain characterized by replacement of greater portions of the cerebral hemispheres and the corpus striatum by cerebrospinal fluid (CSF) and glial tissue. [HPO:probinson]