Dandy-walker syndrome

Preferred Label : Dandy-walker syndrome;

Symbol : DWS;

CISMeF acronym : DWM; DWS;

Type : Phenotype or locus, molecular basis unknown;

Included titles and symbols : Dandy-walker malformation; DWM;

Description : Dandy-Walker malformation is defined by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. Affected individuals often have motor deficits such as delayed motor development, hypotonia, and ataxia; about half have mental retardation and some have hydrocephalus. DWM is a heterogeneous disorder. The low empiric recurrence risk of approximately 1 to 2% for nonsyndromic DWM suggests that mendelian inheritance is unlikely (summary by Murray et al., 1985).;

Inheritance : Isolated cases;

Laboratory abnormalities : Interstitial deletions of 3q, de novo (in some patients);

Prefixed ID : %220200;

Détails

Origin ID

220200;

UMLS CUI

C0010964;

Automatic exact mappings (from CISMeF team)
- Atresia of foramina of Magendie and Luschka [ICD-10 Sub-category]
- brain malformations [MedlinePlus Topic]
- cerebellar disorders [MedlinePlus Topic]
- dandy-walker syndrome [HGNC gene]
Currated CISMeF NLP mapping
- Atresia of foramina of Magendie and Luschka [ICD-10 Sub-category (who)]
- Dandy Walker syndrome [Disease (Nov.)]
- Dandy-Walker Malformation [NCIt concept]
- Dandy-Walker anomaly [HRDO Sign]
- Dandy-Walker cyst [ACR pathology]
- Dandy-Walker malformation [HPO term]
- Dandy-Walker malformation [ICD-11 Subcategory]
- Dandy-Walker malformation [PASCAL descriptor]
- Dandy-Walker syndrome [DO Concept]
- Dandy-Walker syndrome [MedDRA Preferred Term]
- Dandy-Walker syndrome [MeSH Descriptor]
- Dandy-Walker syndrome [MeSH concept]
- Dandy-Walker syndrome (disorder) [SNOMED CT concept]
- Isolated Dandy-Walker malformation [ORDO Disease]
- dandy-walker syndrome [SNOMED Notion]
DO Cross reference
- Dandy-Walker syndrome [DO Concept]
HPO term(s)
- Agenesis of cerebellar vermis [HPO term]
- Cranial nerve paralysis [HPO term]
- Dilated fourth ventricle [HPO term]
- Elevated imprint of the transverse sinuses [HPO term]
- Heterogeneous [HPO term]
- Hydrocephalus [HPO term]
- Nystagmus [HPO term]
- Partial absence of cerebellar vermis [HPO term]
- Posterior fossa cyst at the fourth ventricle [HPO term]
- Sporadic [HPO term]
- Thinning and bulging of the posterior fossa bones [HPO term]
- Truncal ataxia [HPO term]
ORDO concept(s)
- Isolated Dandy-Walker malformation [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Atresia of foramina of Magendie and Luschka [ICD-10 Sub-category]
- Dandy Walker syndrome [Disease (Nov.)]
- Dandy-Walker Malformation [NCIt concept]
- Dandy-Walker anomaly [HRDO Sign]
- Dandy-Walker malformation [HPO term]
- Dandy-Walker syndrome [MedDRA Preferred Term]
- Dandy-Walker syndrome [MeSH Descriptor]
- Dandy-Walker syndrome [MeSH concept]
- Dandy-Walker syndrome [DO Concept]
- Dandy-Walker syndrome (disorder) [SNOMED CT concept]
- Isolated Dandy-Walker malformation [ORDO Disease]
- dandy-walker syndrome [SNOMED Notion]

Position du mot-clé dans l'(les) arborescence(s) :

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