38353004: Congenital porencephaly (disorder)

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

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

\Neurological lesion\Lesion of brain\Congenital porencephaly

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Lesion of brain\Congenital porencephaly
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital porencephaly
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital porencephaly
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Lesion of brain\Congenital porencephaly
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\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\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\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital porencephaly
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital porencephaly
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Lesion of brain\Congenital porencephaly
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\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 (disorder)\Lesion of brain\Congenital porencephaly
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital porencephaly
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital porencephaly
\Disease\Developmental 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	Some
Congenital porencephaly	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	1
Congenital porencephaly	Associated morphology	dysgenese	false	Inferred relationship	Some	1
Congenital porencephaly	Occurrence	Congenital	false	Inferred relationship	Some
Congenital porencephaly	Associated morphology	kongenit kavitation	false	Inferred relationship	Some	1
Congenital porencephaly	Finding site	Brain structure	true	Inferred relationship	Some	1
Congenital porencephaly	Is a	Congenital malformation	false	Inferred relationship	Some
Congenital porencephaly	Finding site	Brain structure	false	Inferred relationship	Some	1
Congenital porencephaly	Associated morphology	kongenit kavitation	false	Inferred relationship	Some	1
Congenital porencephaly	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital porencephaly	Associated morphology	dysgenese	false	Inferred relationship	Some	2
Congenital porencephaly	Finding site	Brain structure	false	Inferred relationship	Some	2
Congenital porencephaly	Occurrence	Congenital	false	Inferred relationship	Some	3
Congenital porencephaly	Finding site	Brain structure	false	Inferred relationship	Some	3
Congenital porencephaly	Associated morphology	kongenit kavitation	false	Inferred relationship	Some	3
Congenital porencephaly	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital porencephaly	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital porencephaly	Is a	Kongenitte anomalier og udviklingsanomalier i nervesystemet	false	Inferred relationship	Some
Congenital porencephaly	Associated morphology	Cystic dilatation	true	Inferred relationship	Some	1
Congenital porencephaly	Is a	Lesion of brain	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterised by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed.	Is a	True	Congenital porencephaly	Inferred relationship	Some
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	Some

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
1720581000005119	Kongenit porencefali	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)