| Descriptor English: | Cobblestone Lissencephaly | ||||||
| Descriptor Spanish: |
Lisencefalia de Cobblestone
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| Descriptor Portuguese: | Lissencefalia Cobblestone | ||||||
| Descriptor French: | Lissencéphalie pavimenteuse | ||||||
| Entry term(s): |
Cobblestone Complex Cobblestone Dysplasia Cobblestone Dysplasias Cobblestone Lissencephalies Dysplasia, Cobblestone Dysplasias, Cobblestone Lissencephalies, Cobblestone Lissencephaly Type 2 Lissencephaly, Cobblestone |
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| Tree number(s): |
C10.500.507.450.499.249 C16.131.666.507.450.249 C16.131.666.507.450.499.249 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D054222 | ||||||
| Scope note: | The smooth pebbled appearance of the CEREBRAL CORTEX with a thickened cortex and reduced and abnormal white matter, which results from migration of heterotopic neurons beyond the marginal zone into the leptomeninges through gaps in the external BASEMENT MEMBRANE. There is also enlarged ventricles, underdeveloped BRAINSTEM and cerebellum, and absence of the CORPUS CALLOSUM. These abnormalities occur as a syndrome without other birth defects (cobblestone complex) or in other syndromes associated with congenital MUSCULAR DYSTROPHY, often involving the eye, such as the Walker-Warburg Syndrome, Fukuyama congenital muscular dystrophy, and muscle-eye-brain disease. |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Cerebral Cortex/abnormalities (1996-2007) |
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| Public MeSH Note: | 2008 |
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| History Note: | 2008 |
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| DeCS ID: | 52596 | ||||||
| Unique ID: | D054222 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 2008/01/01 | ||||||
| Date of Entry: | 2007/07/09 |
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Cobblestone Lissencephaly
- Preferred
Cobblestone Complex
- Narrower
| Concept UI |
M0502962 |
| Scope note | The smooth pebbled appearance of the CEREBRAL CORTEX with a thickened cortex and reduced and abnormal white matter, which results from migration of heterotopic neurons beyond the marginal zone into the leptomeninges through gaps in the external BASEMENT MEMBRANE. There is also enlarged ventricles, underdeveloped BRAINSTEM and cerebellum, and absence of the CORPUS CALLOSUM. These abnormalities occur as a syndrome without other birth defects (cobblestone complex) or in other syndromes associated with congenital MUSCULAR DYSTROPHY, often involving the eye, such as the Walker-Warburg Syndrome, Fukuyama congenital muscular dystrophy, and muscle-eye-brain disease. |
| Preferred term | Cobblestone Lissencephaly |
| Entry term(s) |
Cobblestone Dysplasia Cobblestone Dysplasias Cobblestone Lissencephalies Dysplasia, Cobblestone Dysplasias, Cobblestone Lissencephalies, Cobblestone Lissencephaly Type 2 Lissencephaly, Cobblestone |
| Concept UI |
M0502963 |
| Preferred term | Cobblestone Complex |
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