38353004: Congenital porencephaly (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of brain\Disorder of brain\Lesion of brain (disorder)\Congenital porencephaly
\Head finding (finding)\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital porencephaly
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital porencephaly
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Lesion of brain (disorder)\Congenital porencephaly
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital porencephaly

\Neurological lesion\Lesion of brain (disorder)\Congenital porencephaly

\Central nervous system finding\Finding of brain\Disorder of brain\Lesion of brain (disorder)\Congenital porencephaly
\Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital porencephaly
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital porencephaly
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Lesion of brain (disorder)\Congenital porencephaly
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital porencephaly

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital porencephaly
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital porencephaly
\Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital porencephaly
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital porencephaly
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Lesion of brain (disorder)\Congenital porencephaly
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital porencephaly
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital porencephaly
\Disease\Disorder of head (disorder)\Disorder of brain\Lesion of brain (disorder)\Congenital porencephaly
\Disease\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital porencephaly
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital porencephaly
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital porencephaly

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital porencephaly	Is a	Congenital anomaly of brain	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital porencephaly	Finding site	Structure of central nervous system	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital porencephaly	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital porencephaly	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital porencephaly	Associated morphology	Congenital cavitation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital porencephaly	Finding site	Brain structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital porencephaly	Is a	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital porencephaly	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital porencephaly	Associated morphology	Congenital cavitation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital porencephaly	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital porencephaly	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital porencephaly	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital porencephaly	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital porencephaly	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital porencephaly	Associated morphology	Congenital cavitation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital porencephaly	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital porencephaly	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital porencephaly	Is a	Congenital and developmental anomalies of the nervous system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital porencephaly	Associated morphology	Cystic dilatation	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital porencephaly	Is a	Lesion of brain (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder)	Is a	True	Congenital porencephaly	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. Caused by homozygous mutation in the JAM3 gene on chromosome 11q25.	Is a	True	Congenital porencephaly	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
63417013	Congenital porencephaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
63419011	Congenital porencephalia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
63420017	Congenital cerebral porosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
63421018	Schizencephalic porencephaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
773333019	Congenital porencephaly (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
63417013	Congenital porencephaly	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
63417013	Congenital porencephaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
63418015	Schizencephaly	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
63419011	Congenital porencephalia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
63419011	Congenital porencephalia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
63420017	Congenital cerebral porosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
63420017	Congenital cerebral porosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
63421018	Schizencephalic porencephaly	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
63421018	Schizencephalic porencephaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
773333019	Congenital porencephaly (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
773333019	Congenital porencephaly (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
508771000172117	porencéphalie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
508771000172117	porencéphalie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module