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719139003: X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3315142018 X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3315143011 X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3315144017 Pettigrew syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401964012 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401965013 A rare central nervous system malformation characterised 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3315142018 X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3315143011 X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3315144017 Pettigrew syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3315145016 A central nervous system malformation with characteristics of severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead) and brain imaging abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401964012 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401965013 A rare central nervous system malformation characterised 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3442271001000116 X-chromosomale Intelligenzminderung-Dandy-Walker-Malformation-Basalganglienkrankheit-Krämpfe-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
905011000172111 syndrome de déficience intellectuelle liée à l'X-malformation de Dandy-Walker-anomalies des noyaux gris centraux-convulsions fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
989281000172110 syndrome de déficience intellectuelle liée à l'X, malformation de Dandy-Walker, anomalies des ganglions de la base, convulsions fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
905011000172111 syndrome de déficience intellectuelle liée à l'X-malformation de Dandy-Walker-anomalies des noyaux gris centraux-convulsions fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
989281000172110 syndrome de déficience intellectuelle liée à l'X, malformation de Dandy-Walker, anomalies des ganglions de la base, convulsions fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3442271001000116 X-chromosomale Intelligenzminderung-Dandy-Walker-Malformation-Basalganglienkrankheit-Krämpfe-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Pettigrew syndrome Is a Dandy-Walker syndrome (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Pettigrew syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Pettigrew syndrome Is a Disorder of basal ganglia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Pettigrew syndrome Is a retard mental false Inferred relationship Existential restriction modifier (core metadata concept)
Pettigrew syndrome Is a X-linked hereditary disease false Inferred relationship Existential restriction modifier (core metadata concept)
Pettigrew syndrome Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Pettigrew syndrome Finding site Basal ganglion structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Pettigrew syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 6
Pettigrew syndrome Associated morphology Aplasia false Inferred relationship Existential restriction modifier (core metadata concept) 8
Pettigrew syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 8
Pettigrew syndrome Finding site Cerebellar vermis structure false Inferred relationship Existential restriction modifier (core metadata concept) 8
Pettigrew syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 10
Pettigrew syndrome Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 7
Pettigrew syndrome Finding site Cerebellar vermis structure false Inferred relationship Existential restriction modifier (core metadata concept) 7
Pettigrew syndrome Finding site Lateral aperture of fourth ventricle false Inferred relationship Existential restriction modifier (core metadata concept) 7
Pettigrew syndrome Finding site Foramen of Magendie false Inferred relationship Existential restriction modifier (core metadata concept) 7
Pettigrew syndrome Associated morphology Congenital dilatation false Inferred relationship Existential restriction modifier (core metadata concept) 10
Pettigrew syndrome Finding site Structure of brain cerebrospinal fluid pathway (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 10
Pettigrew syndrome Associated morphology Congenital cavitation false Inferred relationship Existential restriction modifier (core metadata concept) 6
Pettigrew syndrome Finding site Infratentorial brain structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
Pettigrew syndrome Associated morphology Congenital cavitation false Inferred relationship Existential restriction modifier (core metadata concept) 9
Pettigrew syndrome Finding site Infratentorial brain structure false Inferred relationship Existential restriction modifier (core metadata concept) 9
Pettigrew syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 6
Pettigrew syndrome Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 6
Pettigrew syndrome Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Pettigrew syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Pettigrew syndrome Finding site Cerebellar vermis structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Pettigrew syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Pettigrew syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Pettigrew syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Pettigrew syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Pettigrew syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Pettigrew syndrome Finding site Basal ganglion structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Pettigrew syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Pettigrew syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Pettigrew syndrome Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Pettigrew syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Pettigrew syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Pettigrew syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Pettigrew syndrome Finding site Cerebellar vermis structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Pettigrew syndrome Associated morphology Congenital malrotation true Inferred relationship Existential restriction modifier (core metadata concept) 3
Pettigrew syndrome Finding site Fourth ventricle structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Pettigrew syndrome Associated morphology Congenital cavitation false Inferred relationship Existential restriction modifier (core metadata concept) 5
Pettigrew syndrome Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier (core metadata concept) 4
Pettigrew syndrome Associated morphology Cystic dilatation true Inferred relationship Existential restriction modifier (core metadata concept) 5
Pettigrew syndrome Associated morphology Cystic dilatation true Inferred relationship Existential restriction modifier (core metadata concept) 6
Pettigrew syndrome Finding site Fourth ventricle structure true Inferred relationship Existential restriction modifier (core metadata concept) 6
Pettigrew syndrome Finding site Infratentorial brain structure true Inferred relationship Existential restriction modifier (core metadata concept) 5
Pettigrew syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Pettigrew syndrome Is a X-linked recessive hereditary disease true Inferred relationship Existential restriction modifier (core metadata concept)
Pettigrew syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Pettigrew syndrome Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 7
Pettigrew syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 7
Pettigrew syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 8
Pettigrew syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 8

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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