14447001: Dandy-Walker syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Lesion of brain\Cystic malformation of posterior fossa (disorder)\Dandy-Walker syndrome
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Hydrocephalus\Congenital hydrocephalus\Dandy-Walker syndrome
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Dandy-Walker syndrome
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Cystic malformation of posterior fossa (disorder)\Dandy-Walker syndrome
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Dandy-Walker syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Cystic malformation of posterior fossa (disorder)\Dandy-Walker syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Lesion of brain\Cystic malformation of posterior fossa (disorder)\Dandy-Walker syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Hydrocephalus\Congenital hydrocephalus\Dandy-Walker syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Dandy-Walker syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Cystic malformation of posterior fossa (disorder)\Dandy-Walker syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome

\Neurological lesion\Lesion of brain\Cystic malformation of posterior fossa (disorder)\Dandy-Walker syndrome

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Lesion of brain\Cystic malformation of posterior fossa (disorder)\Dandy-Walker syndrome
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Hydrocephalus\Congenital hydrocephalus\Dandy-Walker syndrome
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Dandy-Walker syndrome
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Cystic malformation of posterior fossa (disorder)\Dandy-Walker syndrome
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Dandy-Walker syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Cystic malformation of posterior fossa (disorder)\Dandy-Walker syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Lesion of brain\Cystic malformation of posterior fossa (disorder)\Dandy-Walker syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Hydrocephalus\Congenital hydrocephalus\Dandy-Walker syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Dandy-Walker syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Cystic malformation of posterior fossa (disorder)\Dandy-Walker syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dandy-Walker syndrome	Is a	Congenital hydrocephalus	true	Inferred relationship	Some
Dandy-Walker syndrome	Is a	Aplasia of the vermis	false	Inferred relationship	Some
Dandy-Walker syndrome	Finding site	Foramen of Magendie	false	Inferred relationship	Some	1
Dandy-Walker syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Dandy-Walker syndrome	Finding site	Cerebrospinal fluid	false	Inferred relationship	Some
Dandy-Walker syndrome	Finding site	Foramen of Luschka	false	Inferred relationship	Some	3
Dandy-Walker syndrome	Finding site	Cerebellar vermis structure	true	Inferred relationship	Some	1
Dandy-Walker syndrome	Associated morphology	Non-communicating cerebrospinal fluid retention	false	Inferred relationship	Some	2
Dandy-Walker syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Dandy-Walker syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Some	1
Dandy-Walker syndrome	Finding site	Brain structure	false	Inferred relationship	Some	1
Dandy-Walker syndrome	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	1
Dandy-Walker syndrome	Finding site	Space of ventricular system of brain	false	Inferred relationship	Some	1
Dandy-Walker syndrome	Finding site	Lateral aperture of fourth ventricle	false	Inferred relationship	Some	1
Dandy-Walker syndrome	Finding site	Space of ventricular system of brain	false	Inferred relationship	Some	2
Dandy-Walker syndrome	Associated morphology	Dilatation	false	Inferred relationship	Some	2
Dandy-Walker syndrome	Associated morphology	Accumulation of fluid	false	Inferred relationship	Some	1
Dandy-Walker syndrome	Associated morphology	anomalie congénitale du développement	false	Inferred relationship	Some	3
Dandy-Walker syndrome	Finding site	Cerebellar structure	false	Inferred relationship	Some	3
Dandy-Walker syndrome	Finding site	Brain cerebrospinal fluid pathway	false	Inferred relationship	Some	2
Dandy-Walker syndrome	Finding site	Cerebellar vermis structure	true	Inferred relationship	Some	3
Dandy-Walker syndrome	Associated morphology	anomalie congénitale du développement	false	Inferred relationship	Some	3
Dandy-Walker syndrome	Is a	Cystic malformation of posterior fossa (disorder)	true	Inferred relationship	Some
Dandy-Walker syndrome	Finding site	Infratentorial brain structure	true	Inferred relationship	Some	4
Dandy-Walker syndrome	Associated morphology	Congenital cavitation	false	Inferred relationship	Some	4
Dandy-Walker syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Dandy-Walker syndrome	Associated morphology	Aplasia	false	Inferred relationship	Some	5
Dandy-Walker syndrome	Finding site	Cerebellar vermis structure	false	Inferred relationship	Some	5
Dandy-Walker syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Dandy-Walker syndrome	Associated morphology	Congenital dilatation	false	Inferred relationship	Some	3
Dandy-Walker syndrome	Finding site	Brain cerebrospinal fluid pathway	false	Inferred relationship	Some	3
Dandy-Walker syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Dandy-Walker syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Dandy-Walker syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Dandy-Walker syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Dandy-Walker syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Dandy-Walker syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Dandy-Walker syndrome	Associated morphology	Hypoplasia	true	Inferred relationship	Some	1
Dandy-Walker syndrome	Associated morphology	Congenital malrotation	true	Inferred relationship	Some	3
Dandy-Walker syndrome	Finding site	Fourth ventricle structure	true	Inferred relationship	Some	2
Dandy-Walker syndrome	Is a	Congenital cerebellar hypoplasia	true	Inferred relationship	Some
Dandy-Walker syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Dandy-Walker syndrome	Associated morphology	Congenital cavitation	false	Inferred relationship	Some	2
Dandy-Walker syndrome	Associated morphology	Cystic dilatation	true	Inferred relationship	Some	4
Dandy-Walker syndrome	Associated morphology	Cystic dilatation	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Dandy-Walker syndrome with spina bifida	Is a	True	Dandy-Walker syndrome	Inferred relationship	Some
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.	Is a	True	Dandy-Walker syndrome	Inferred relationship	Some
A rare central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition.	Is a	True	Dandy-Walker syndrome	Inferred relationship	Some
A rare malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay.	Is a	True	Dandy-Walker syndrome	Inferred relationship	Some
A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993.	Is a	True	Dandy-Walker syndrome	Inferred relationship	Some
A rare neurologic disease characterized by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs.	Is a	True	Dandy-Walker syndrome	Inferred relationship	Some
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989.	Is a	True	Dandy-Walker syndrome	Inferred relationship	Some
A syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals.	Is a	True	Dandy-Walker syndrome	Inferred relationship	Some
Hydrocephalus due to Dandy-Walker malformation (disorder)	Due to	True	Dandy-Walker syndrome	Inferred relationship	Some	1

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
24561014	Dandy-Walker syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
24563012	Dandy-Walker deformity	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
740530013	Dandy-Walker syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1221097015	Dandy-Walker malformation	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2061000172113	syndrome de Dandy-Walker	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3419441001000113	Dandy-Walker-Malformation, isolierte	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module