loading...| Preferred Name | Dandy-Walker syndrome | |
| Synonyms |
Dandy-Walker complex isolated Dandy-Walker malformation Dandy-Walker malformation Dandy-Walker syndrome or malformation (type of DW complex) mega cisterna magna (type of DW complex) Dandy-Walker variant (type of DW complex) DW complex DWS Dandy-Walker syndrome (disorder) Dandy Walker Malformation atresia of foramina of Magendie and Luschka Dandy-Walker syndrome Atresia of foramina of Magendie and Luschka Dandy-Walker syndrome, Isolated cases (Atresia of foramina of Magendie + Luschka) or (Dandy - Walker syndrome) Dandy-Walker Syndrome |
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| Definitions |
A congenital abnormality of the central nervous system marked by failure of the midline structures of the cerebellum to develop, dilation of the fourth ventricle, and upward displacement of the transverse sinuses, tentorium, and torcula. Clinical features include occipital bossing, progressive head enlargement, bulging of anterior fontanelle, papilledema, ataxia, gait disturbances, nystagmus, and intellectual compromise. (From Menkes, Textbook of Child Neurology, 5th ed, pp294-5) Dandy-Walker malformation (DWM) is the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia. |
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| ID |
http://www.ebi.ac.uk/efo/EFO_1000890 |
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| database_cross_reference |
NCIT:C75012 Orphanet:217 MESH:D003616 SCTID:14447001 MONDO:0009072 SNOMEDCT:14447001 MeSH:D003616 MedDRA:10048411 OMIM:220200 MEDGEN:4150 icd11.foundation:993088960 UMLS:C0010964 NANDO:2200821 DOID:2785 GARD:6242 NORD:1032 |
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| definition |
A congenital abnormality of the central nervous system marked by failure of the midline structures of the cerebellum to develop, dilation of the fourth ventricle, and upward displacement of the transverse sinuses, tentorium, and torcula. Clinical features include occipital bossing, progressive head enlargement, bulging of anterior fontanelle, papilledema, ataxia, gait disturbances, nystagmus, and intellectual compromise. (From Menkes, Textbook of Child Neurology, 5th ed, pp294-5) Dandy-Walker malformation (DWM) is the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia. |
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| has_exact_synonym |
Dandy-Walker syndrome (disorder) Dandy Walker Malformation atresia of foramina of Magendie and Luschka Dandy-Walker syndrome Atresia of foramina of Magendie and Luschka Dandy-Walker syndrome, Isolated cases (Atresia of foramina of Magendie + Luschka) or (Dandy - Walker syndrome) Dandy-Walker Syndrome |
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| has_related_synonym |
Dandy-Walker complex isolated Dandy-Walker malformation Dandy-Walker malformation Dandy-Walker syndrome or malformation (type of DW complex) mega cisterna magna (type of DW complex) Dandy-Walker variant (type of DW complex) DW complex DWS |
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| IAO_0000233 | ||
| id |
EFO:1000890 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_morphological_anomaly http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
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| label |
Dandy-Walker syndrome |
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| notation |
EFO:1000890 |
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| preferred label |
Dandy-Walker syndrome |
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| prefLabel |
Dandy-Walker syndrome |
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| skos_closeMatch | ||
| skos_exactMatch |
http://identifiers.org/mesh/D003616 http://identifiers.org/medgen/4150 http://purl.obolibrary.org/obo/Orphanet_217 http://purl.obolibrary.org/obo/EFO_1000890 http://purl.obolibrary.org/obo/NCIT_C75012 http://purl.obolibrary.org/obo/DOID_2785 http://identifiers.org/snomedct/14447001 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/993088960 |
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| term editor |
Sirarat Sarntivijai |
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| subClassOf |