1162864000: Familial porencephaly (disorder)

SNOMED CT Concept\Clinical finding\...

\Mass of body structure\Mass of body region\Mass of head and/or neck\Mass of head\Intracranial mass\Mass lesion of brain\Cerebral cyst\Porencephalic cyst\Familial porencephaly
\Mass of body structure\Space-occupying lesion of nervous system\Mass lesion of brain\Cerebral cyst\Porencephalic cyst\Familial porencephaly
\Mass of body structure\Space-occupying lesion of nervous system\Cyst of central nervous system\Cerebral cyst\Porencephalic cyst\Familial porencephaly

\Neurological lesion\Lesion of brain\Cerebral cyst\Porencephalic cyst\Familial porencephaly
\Neurological lesion\Space-occupying lesion of nervous system\Mass lesion of brain\Cerebral cyst\Porencephalic cyst\Familial porencephaly
\Neurological lesion\Space-occupying lesion of nervous system\Cyst of central nervous system\Cerebral cyst\Porencephalic cyst\Familial porencephaly

\Central nervous system finding\Finding of brain\Mass lesion of brain\Cerebral cyst\Porencephalic cyst\Familial porencephaly
\Central nervous system finding\Finding of brain\Encephalopathy\Lesion of brain\Cerebral cyst\Porencephalic cyst\Familial porencephaly
\Central nervous system finding\Disorder of the central nervous system\Cyst of central nervous system\Cerebral cyst\Porencephalic cyst\Familial porencephaly
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Lesion of brain\Cerebral cyst\Porencephalic cyst\Familial porencephaly

\Finding of head and neck region\Head finding\Mass of head\Intracranial mass\Mass lesion of brain\Cerebral cyst\Porencephalic cyst\Familial porencephaly
\Finding of head and neck region\Head finding\Finding of brain\Mass lesion of brain\Cerebral cyst\Porencephalic cyst\Familial porencephaly
\Finding of head and neck region\Head finding\Finding of brain\Encephalopathy\Lesion of brain\Cerebral cyst\Porencephalic cyst\Familial porencephaly
\Finding of head and neck region\Head finding\Finding of head region\Porencephalic cyst\Familial porencephaly
\Finding of head and neck region\Head finding\Disorder of head\Encephalopathy\Lesion of brain\Cerebral cyst\Porencephalic cyst\Familial porencephaly
\Finding of head and neck region\Mass of head and/or neck\Mass of head\Intracranial mass\Mass lesion of brain\Cerebral cyst\Porencephalic cyst\Familial porencephaly

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Familial porencephaly
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Familial porencephaly
\Disease\Cyst\Cyst of central nervous system\Cerebral cyst\Porencephalic cyst\Familial porencephaly
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Familial porencephaly
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Familial porencephaly
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Cyst of central nervous system\Cerebral cyst\Porencephalic cyst\Familial porencephaly
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Lesion of brain\Cerebral cyst\Porencephalic cyst\Familial porencephaly
\Disease\Disorder of head\Encephalopathy\Lesion of brain\Cerebral cyst\Porencephalic cyst\Familial porencephaly

Status: current, Defined. Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4591809015 Familial porencephaly (disorder) en Fully specified name Active Case insensitive SNOMED CT core

4591810013 Familial porencephalic cyst en Synonym Active Case insensitive SNOMED CT core

4591811012 Familial porencephaly en Synonym Active Case insensitive SNOMED CT core

4591812017 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. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial porencephaly	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Familial porencephaly	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Familial porencephaly	Is a	Porencephalic cyst	true	Inferred relationship	Some
Familial porencephaly	Finding site	Cerebral hemisphere structure	true	Inferred relationship	Some	1
Familial porencephaly	Associated morphology	Cyst	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4591809015	Familial porencephaly (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4591810013	Familial porencephalic cyst	en	Synonym	Active	Case insensitive	SNOMED CT core
4591811012	Familial porencephaly	en	Synonym	Active	Case insensitive	SNOMED CT core
4591812017	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.	en	Definition	Active	Case sensitive	SNOMED CT core