loading...| Preferred Name |
Cephalocele |
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| Synonyms |
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| 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. |
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| ID |
http://purl.obolibrary.org/obo/HP_0011815 |
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| 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). |
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| creation_date |
2012-04-29T09:04:09Z |
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| database_cross_reference |
UMLS:C0014065 SNOMEDCT_US:55999004 SNOMEDCT_US:253101008 SNOMEDCT_US:48777005 MSH:D004677 |
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| 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. |
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| has_obo_namespace |
human_phenotype |
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| id |
HP:0011815 |
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| label |
Cephalocele |
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| notation |
HP:0011815 |
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| prefLabel |
Cephalocele |
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