PedAM
Pediatric Disease Annotations & Medicines
| encephalocele | ||||
| Disease ID | 1411 |
|---|---|
| Disease | encephalocele |
| Definition | 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. |
| Synonym | bifid cranium bifid craniums bifid skull bifidum, cranium bifidums, cranium cephalocele cephaloceles cerebral hernia cerebral hernias congenital cerebral hernia congenital cerebral hernia (disorder) congenitalcerebral hernia cranial meningoencephalocele cranial meningoencephaloceles craniocele cranioceles cranium bifidum cranium bifidums cranium, bifid craniums, bifid encephalocele (disorder) encephalocele [disease/finding] encephalocele nos encephalocele nos (disorder) encephalocele, nos encephaloceles hernia, cerebral hernias, cerebral meningoencephalocele, cranial meningoencephaloceles, cranial |
| Orphanet | |
| UMLS | C0014065 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:22) C0039538 | teratoma | 3 C0025958 | microcephaly | 3 C0014544 | epilepsy | 3 C0080178 | spina bifida | 2 C0011649 | dermoid | 2 C0020255 | hydrocephalus | 2 C0011649 | dermoid cyst | 2 C0014556 | temporal lobe epilepsy | 1 C0039743 | thanatophoric dysplasia | 1 C0027830 | neurofibroma | 1 C0015300 | exophthalmos | 1 C0032914 | preeclampsia | 1 C0025289 | meningitis | 1 C0151740 | intracranial hypertension | 1 C0242343 | panhypopituitarism | 1 C0020538 | hypertension | 1 C0014130 | endocrine disorders | 1 C0010278 | craniosynostosis | 1 C0007137 | squamous cell carcinoma | 1 C0008925 | cleft palate | 1 C0026709 | mps vi | 1 C0041341 | tuberous sclerosis | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1411 |
|---|---|
| Disease | encephalocele |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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All Snps(Total Genotypes:0) | |
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GWASdb Annotation(Total Genotypes:0) | |
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GWASdb Snp Trait(Total Genotypes:0) | |
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Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
Chemical(Total Drugs:1) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0014065 | thalidomide | D013792 | 50-35-1 | encephalocele | MESH:D004677 | marker/mechanism | 21505091 | ||
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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