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65705009: Porencephalic cyst (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
109167010 Porencephalic cyst en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
805238019 Porencephalic cyst (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1788851000005118 Porencefal cyste da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)


4 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Porencephalic cyst Is a Cerebral cyst true Inferred relationship Some
Porencephalic cyst Finding site Brain structure false Inferred relationship Some 1
Porencephalic cyst Associated morphology Cyst false Inferred relationship Some 1
Porencephalic cyst Associated morphology Cyst true Inferred relationship Some 1
Porencephalic cyst Finding site Brain structure false Inferred relationship Some 1
Porencephalic cyst Finding site Cerebral hemisphere structure (body structure) true Inferred relationship Some 1
Porencephalic cyst Is a Finding of head region true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Acquired porencephaly Is a True Porencephalic cyst Inferred relationship Some
Congenital porencephalic cyst (disorder) Is a True Porencephalic cyst Inferred relationship Some
A rare genetic cerebral malformation with characteristics of 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. Porencephaly may manifest before or after birth. The cysts or cavities can be located anywhere within the cerebral parenchyma and are typically lined by smooth walls and surrounded by an atrophic cortex. Mutations in the COL4A1 (13q34) and COL4A2 (13q34) genes have been identified in familial porencephaly and de novo cases. The pattern of inheritance for familial porencephaly is autosomal dominant. Is a True Porencephalic cyst Inferred relationship Some

This concept is not in any reference sets

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