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Diseases

Congenital cerebral hernia

congenital cerebral hernia

Entity Type
Diseases
Relation Groups
3
Relation Preview
24

Basic Information

Grouped by core information, identifiers, and descriptions.

Current candidates are inferred from disease-target-ingredient-herb paths and do not represent a formal recommendation ranking.

Core Information

Disease Name
Congenital cerebral hernia
Standard Disease Name
congenital cerebral hernia
MeSH Tree
No data
ICD-10
Q01|Q01.9

Identifiers

DO ID
No data
MeSH ID
D004677
OMIM ID
MTHU002500|MTHU000609
UMLS ID
C0014065
HPO ID
No data

Description and Extensions

Description
NCI2016_02D:A congenital neural tube closure defect resulting in the protrusion of the brain through a skull opening. When the protrusion includes the meninges, the term encephalomeningocele is used.|MSH2017_2016_08_12:Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur.|HPO2016_07_04:A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. [HPO:probinson]|HPO2016_07_04:A congenital defect in the skull, whereby there is a protrusion of part of the cranial contents through a congenital defect in the cranium, usually covered with skin or mucous membrane. The term encephalocele refers to a subclass of these lesions in which brain tissue protrudes through the defect. [HPO:probinson] {name="PMID:24931720"}
Related

Direct relations and traceable candidates grouped by relation type.

Related Targets

target disease8 Targets
07
PCYT1A
phosphate cytidylyltransferase 1, choline, alpha
phosphate cytidylyltransferase 1, choline, alpha