Combined Phenotype Ontology

Last uploaded: November 18, 2021
Preferred Name

Cephalocele

Synonyms
Definitions

A cephalocele is a rare birth defect that is characterized by a sac-like mass protruding through a defective opening in the skull. The sac varies in size that typically consists of herniated meninges and brain tissue (meningoencephalocele or encephalocele) or fragments of disorganized neural tissue. Alternatively, the sac may contain only the meninges (cranial meningocele) or it may include part of the ventricle filled with CSF (encephalocystocele) covered by skin (from PMID:24931720). 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.

ID

http://purl.obolibrary.org/obo/HP_0011815

comment

A cephalocele is a rare birth defect that is characterized by a sac-like mass protruding through a defective opening in the skull. The sac varies in size that typically consists of herniated meninges and brain tissue (meningoencephalocele or encephalocele) or fragments of disorganized neural tissue. Alternatively, the sac may contain only the meninges (cranial meningocele) or it may include part of the ventricle filled with CSF (encephalocystocele) covered by skin (from PMID:24931720).

creation date

2012-04-29T09:04:09Z

creator

https://orcid.org/0000-0002-0736-9199

database_cross_reference

SNOMEDCT_US:48777005

SNOMEDCT_US:253101008

UMLS:C0014065

MSH:D004677

SNOMEDCT_US:55999004

definition

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.

id

HP:0011815

label

Cephalocele

notation

HP:0011815

prefLabel

Cephalocele

subClassOf

http://purl.obolibrary.org/obo/HP_0000929

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