Porencephaly - CISMeF

Preferred Label : Porencephaly;

MeSH definition : 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.;

MeSH synonym : Porencephalies;

CISMeF synonym : Congenital Porencephalies; Developmental Porencephalies; Encephaloclastic Porencephalies; Familial Porencephalies; Porencephalies, Congenital; Porencephalies, Developmental; Porencephalies, Encephaloclastic; Porencephalies, Familial; Porencephalies, Type 1; Encephaloclastic Porencephaly;

DeCS synonym : Developmental Porencephaly; Congenital Porencephaly;

MeSH hyponym : Post-traumatic Porencephaly; Porencephaly, Familial; Porencephaly, Post-traumatic; Post traumatic Porencephaly; Porencephaly, Congenital; Porencephaly, Type 1, Autosomal Dominant; Familial Porencephalic White Matter Disease; Infantile Hemiplegia with Porencephaly; Porencephaly Type 1; Porencephaly Type 1s; Familial Porencephaly; Porencephaly, Type 1; Type 1 Porencephaly; Autosomal Dominant Porencephaly Type 1; Porencephaly, Developmental; Brain Small Vessel Disease With Axenfeld-Rieger Anomaly; Brain Small Vessel Disease With Axenfeld Rieger Anomaly; Retinal Arteriolar Tortuosity, Infantile Hemiparesis, and Leukoencephalopathy, Autosomal Dominant; Col4a1-Related Brain Small-Vessel Disease; Col4a1 Related Brain Small Vessel Disease; Brain Small-Vessel Disease with Hemorrhage; Brain Small Vessel Disease with Hemorrhage; Leukoencephalopathy with Axenfeld-Rieger Anomaly; Leukoencephalopathy with Axenfeld Rieger Anomaly; Porencephaly, Encephaloclastic; Porencephalies, Post-traumatic; Post-traumatic Porencephalies; Posttraumatic Porencephaly; Porencephalies, Posttraumatic; Porencephaly, Posttraumatic; Posttraumatic Porencephalies;

CISMeF hyponym : Congenital Porencephaly; Developmental Porencephaly;

Wikipedia link : https://en.wikipedia.org/wiki/Porencephaly;

Details

Origin ID

D065708;

UMLS CUI

C4082173;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Acquired porencephaly (disorder) [SNOMED CT concept]
- Congenital cerebral cysts [ICD-10 Sub-category (who)]
- Congenital cerebral cysts [ICD-10 Sub-category]
- Congenital porencephaly (disorder) [SNOMED CT concept]
- Familial porencephaly [ORDO Disease]
- Familial porencephaly [ICD-11 More detail]
- Porencephalia [PASCAL descriptor]
- Porencephalia [MedDRA LLT]
- Porencephalus [MedDRA LLT]
- Porencephaly [ACR pathology]
- Porencephaly [ACR pathology]
- Porencephaly [ACR pathology]
- Porencephaly [ICD-11 Sub-sub category]
- acquired porencephaly [SNOMED Notion]
- congenital porencephaly [SNOMED Notion]
CISMeF manual mappings
- Porencephalic cyst [HPO term]
- Porencephaly [ORDO Disease]
Currated CISMeF NLP mapping
- Brain small vessel disease 1 with or without ocular anomalies [OMIM Phenotype]
- Porencephaly [HRDO Sign]
- Porencephaly [MedDRA Preferred Term]
- brain small vessel disease 1 [DO Concept]
- porencephaly [Radlex concept]
- porencephaly [DO Concept]
- porencephaly [Disease (Nov.)]
DO Cross reference
- porencephaly [DO Concept]
HPO term
- Porencephalic cyst [HPO term]
Manual BTNT mappings - CISMeF
- Acquired porencephaly [ORDO Disease]
- Familial porencephaly [ORDO Disease]
- Porencephaly-cerebellar hypoplasia-internal malformations syndrome [ORDO Disease]
- Porencephaly-microcephaly-bilateral congenital cataract syndrome [ORDO Disease]
Record concept(s)
- Congenital Porencephaly [MeSH concept]
- Developmental Porencephaly [MeSH concept]
- Encephaloclastic Porencephaly [MeSH concept]
- Porencephaly [MeSH concept]
- Porencephaly, Type 1 [MeSH concept]
Related MeSH Supplementary Concept(s)
- porencephaly cerebellar hypoplasia malformations [MeSH Supplementary Concept]
See also
- collagen type iv [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Porencephalic cyst [HPO term]
Validated automatic mappings to BTNT
- Posttraumatic porencephalic cyst of brain (disorder) [SNOMED CT concept]
- congenital porencephaly [Disease (Nov.)]

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