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14447001: Dandy-Walker syndrome (disorder)


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

Descriptions:

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
24561014 Dandy-Walker syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character case insensitive (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 Only initial character case insensitive (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 Only initial character case insensitive (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
3419441001000113 Dandy-Walker-Malformation, isolierte de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
2061000172113 syndrome de Dandy-Walker fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
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


8 descendants. Search Descendants:

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group
Dandy-Walker syndrome with spina bifida Is a True Dandy-Walker syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
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 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Pettigrew syndrome Is a True Dandy-Walker syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Is a True Dandy-Walker syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
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 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Is a True Dandy-Walker syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome characterised 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 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Is a True Dandy-Walker syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hydrocephalus due to Dandy-Walker malformation (disorder) Due to True Dandy-Walker syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 1

This concept is not in any reference sets

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