loading...| Preferred Name |
Porencephaly |
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| Synonyms |
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| Definitions |
A rare, genetic or acquired, cerebral malformation characterized by an intracerebral fluid-filled cyst or cavity with or without communication between the ventricle and subarachnoid space. Clinical manifestations depend on location and severity and may include hemiparesis, seizures, intellectual disability, and dystonia. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_2940 |
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| definition |
A rare, genetic or acquired, cerebral malformation characterized by an intracerebral fluid-filled cyst or cavity with or without communication between the ventricle and subarachnoid space. Clinical manifestations depend on location and severity and may include hemiparesis, seizures, intellectual disability, and dystonia. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2940 |
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| has_age_of_onset |
Antenatal Infancy Neonatal |
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| has_inheritance |
Not applicable Multigenic/multifactorial |
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| hasDbXref |
MedDRA:10036172 ICD-10:Q04.6 OMIM:175780 MeSH:D065708 ICD-11:LA05.60 OMIM:614483 UMLS:C0302892 |
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| label |
Porencephaly |
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| notation |
ORPHA:2940 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_2940 |
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| prefLabel |
Porencephaly |
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| present_in |
Japan AND has_birth_prevalence_average_value : 5.2 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 3.5 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown |
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| treeView | ||
| subClassOf |