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Descriptor English: Porencephaly
Descriptor Spanish: Porencefalia
Descriptor porencefalia
Entry term(s) enfermedad de los vasos pequeños del cerebro asociada a Col4a1
enfermedad de los vasos pequeños del cerebro con anomalía de Axenfeld-Rieger
enfermedad de los vasos pequeños del cerebro con hemorragia
enfermedad porencefálica familiar de la sustancia blanca
hemiplejia infantil con porencefalia
leucoencefalopatía con anomalía de Axenfeld-Rieger
porencefalia autosómica dominante de tipo 1
porencefalia congénita
porencefalia de tipo 1
porencefalia del desarrollo
porencefalia encefaloclástica
porencefalia familiar
porencefalia postraumática
tortuosidad arteriolar retiniana, hemiparesia infantil y leucoencefalopatía de herencia autosómica dominante
Scope note: Malformaciones corticales caracterizadas por una fisura en la sustancia blanca o quistes asociados con ISQUEMIA y agresiones hemorrágicas. Los síntomas incluyen retraso del crecimiento y del desarrollo, HIPOTONÍA, ATAQUES, HEMIPLEJIA ESPÁSTICA y MEGALENCEFALIA, MICROCEFALIA, o HIDROCEFALIA. Existen mutaciones en los genes codificadores del COLÁGENO TIPO IV asociadas con tipos familiares.
Descriptor Portuguese: Porencefalia
Descriptor French: Porencéphalie
Entry term(s): Autosomal Dominant Porencephaly Type 1
Brain Small Vessel Disease With Axenfeld Rieger Anomaly
Brain Small Vessel Disease With Axenfeld-Rieger Anomaly
Brain Small Vessel Disease with Hemorrhage
Brain Small-Vessel Disease with Hemorrhage
Col4a1 Related Brain Small Vessel Disease
Col4a1-Related Brain Small-Vessel Disease
Congenital Porencephaly
Developmental Porencephaly
Encephaloclastic Porencephaly
Familial Porencephalic White Matter Disease
Familial Porencephaly
Infantile Hemiplegia with Porencephaly
Leukoencephalopathy with Axenfeld Rieger Anomaly
Leukoencephalopathy with Axenfeld-Rieger Anomaly
Porencephalies
Porencephalies, Post-traumatic
Porencephalies, Posttraumatic
Porencephaly Type 1
Porencephaly, Congenital
Porencephaly, Developmental
Porencephaly, Encephaloclastic
Porencephaly, Familial
Porencephaly, Post-traumatic
Porencephaly, Posttraumatic
Porencephaly, Type 1
Porencephaly, Type 1, Autosomal Dominant
Post traumatic Porencephaly
Post-traumatic Porencephalies
Post-traumatic Porencephaly
Posttraumatic Porencephalies
Posttraumatic Porencephaly
Posttraumatic Porencephaly
Retinal Arteriolar Tortuosity, Infantile Hemiparesis, and Leukoencephalopathy, Autosomal Dominant
Type 1 Porencephaly
Tree number(s): C05.660.207.620.500
C10.500.507.500.625
C16.131.621.207.620.500
C16.131.666.507.500.625
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D065708
Scope note: Cortical malformations characterized by white matter-lined cleft or cyst associated with ISCHEMIA and hemorrhagic insults. Symptoms include delayed growth and development, HYPOTONIA; SEIZURES; SPASTIC HEMIPLEGIA and MACROCEPHALY; MICROCEPHALY; or HYDROCEPHALUS. Mutations in the genes encoding COLLAGEN TYPE IV are associated with familial types.
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Previous Indexing: Brain Diseases (1963-2014)
Public MeSH Note: 2015
History Note: 2015
Related: Collagen Type IV MeSH
DeCS ID: 55561
Unique ID: D065708
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2015/01/01
Date of Entry: 2014/06/26
Revision Date: 2020/01/16
Porencephaly - Preferred
Concept UI M0590449
Scope note Cortical malformations characterized by white matter-lined cleft or cyst associated with ISCHEMIA and hemorrhagic insults. Symptoms include delayed growth and development, HYPOTONIA; SEIZURES; SPASTIC HEMIPLEGIA and MACROCEPHALY; MICROCEPHALY; or HYDROCEPHALUS. Mutations in the genes encoding COLLAGEN TYPE IV are associated with familial types.
Preferred term Porencephaly
Entry term(s) Porencephalies
Congenital Porencephaly - Narrower
Concept UI M000610853
Preferred term Congenital Porencephaly
Entry term(s) Porencephaly, Congenital
Developmental Porencephaly - Narrower
Concept UI M000611377
Preferred term Developmental Porencephaly
Entry term(s) Porencephaly, Developmental
Porencephaly, Type 1 - Narrower
Concept UI M000644444
Preferred term Porencephaly, Type 1
Entry term(s) Autosomal Dominant Porencephaly Type 1
Brain Small Vessel Disease With Axenfeld Rieger Anomaly
Brain Small Vessel Disease With Axenfeld-Rieger Anomaly
Brain Small Vessel Disease with Hemorrhage
Brain Small-Vessel Disease with Hemorrhage
Col4a1 Related Brain Small Vessel Disease
Col4a1-Related Brain Small-Vessel Disease
Familial Porencephalic White Matter Disease
Familial Porencephaly
Infantile Hemiplegia with Porencephaly
Leukoencephalopathy with Axenfeld Rieger Anomaly
Leukoencephalopathy with Axenfeld-Rieger Anomaly
Porencephaly Type 1
Porencephaly, Familial
Porencephaly, Type 1, Autosomal Dominant
Retinal Arteriolar Tortuosity, Infantile Hemiparesis, and Leukoencephalopathy, Autosomal Dominant
Type 1 Porencephaly
Encephaloclastic Porencephaly - Narrower
Concept UI M000744899
Preferred term Encephaloclastic Porencephaly
Entry term(s) Porencephalies, Post-traumatic
Porencephalies, Posttraumatic
Porencephaly, Encephaloclastic
Porencephaly, Post-traumatic
Porencephaly, Posttraumatic
Post traumatic Porencephaly
Post-traumatic Porencephalies
Post-traumatic Porencephaly
Posttraumatic Porencephalies
Posttraumatic Porencephaly
Posttraumatic Porencephaly



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