Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3499396013 | Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3499397016 | Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
763031000241117 | syndrome de dysmorphie-macrocéphalie-myopie-malformation de Dandy-Walker (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
944601000172111 | syndrome de dysmorphie-macrocéphalie-myopie-malformation de Dandy-Walker | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
3499988014 | Syndrome with characteristics of Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 6 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 6 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 1 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | localisation d'une constatation (attribut) | Entire head | false | Inferred relationship | Some | 1 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 7 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | localisation d'une constatation (attribut) | Cerebellar vermis structure | true | Inferred relationship | Some | 5 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | morphologie associée (attribut) | Congenital enlargement (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 1 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 4 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 3 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | localisation d'une constatation (attribut) | Structure of visual system (body structure) | true | Inferred relationship | Some | 2 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 3 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 5 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | morphologie associée (attribut) | Congenital cavitation (morphologic abnormality) | false | Inferred relationship | Some | 6 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | morphologie associée (attribut) | Hypoplasia (morphologic abnormality) | true | Inferred relationship | Some | 5 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | localisation d'une constatation (attribut) | Fourth ventricle structure | false | Inferred relationship | Some | 6 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | morphologie associée (attribut) | Congenital malrotation (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | localisation d'une constatation (attribut) | Cerebellar vermis structure | true | Inferred relationship | Some | 4 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | morphologie associée (attribut) | Cystic dilatation | true | Inferred relationship | Some | 6 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | morphologie associée (attribut) | Enlargement (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | morphologie associée (attribut) | Cystic dilatation | true | Inferred relationship | Some | 7 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | localisation d'une constatation (attribut) | Fourth ventricle structure | true | Inferred relationship | Some | 7 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | localisation d'une constatation (attribut) | Infratentorial brain structure | true | Inferred relationship | Some | 6 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | est un(e) (attribut) | Congenital macrocephaly (disorder) | true | Inferred relationship | Some | ||
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | a pour interprétation (attribut) | au-dessus de l'étendue de référence | true | Inferred relationship | Some | 8 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | interprète (attribut) | Head circumference | true | Inferred relationship | Some | 8 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | est un(e) (attribut) | syndrome de Dandy-Walker | true | Inferred relationship | Some | ||
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | est un(e) (attribut) | Macrocephaly | false | Inferred relationship | Some | ||
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | est un(e) (attribut) | Severe myopia | true | Inferred relationship | Some | ||
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | est un(e) (attribut) | Mental retardation | false | Inferred relationship | Some | ||
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 7 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 8 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 9 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | morphologie associée (attribut) | Congenital cavitation (morphologic abnormality) | false | Inferred relationship | Some | 10 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | localisation d'une constatation (attribut) | Infratentorial brain structure | false | Inferred relationship | Some | 10 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 13 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 11 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | localisation d'une constatation (attribut) | Cerebellar vermis structure | false | Inferred relationship | Some | 12 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | morphologie associée (attribut) | Congenital anomaly | false | Inferred relationship | Some | 12 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | localisation d'une constatation (attribut) | Lateral aperture of fourth ventricle | false | Inferred relationship | Some | 12 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | localisation d'une constatation (attribut) | Foramen of Magendie | false | Inferred relationship | Some | 12 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 7 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | localisation d'une constatation (attribut) | face | false | Inferred relationship | Some | 7 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | morphologie associée (attribut) | Congenital dilatation (morphologic abnormality) | false | Inferred relationship | Some | 13 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | localisation d'une constatation (attribut) | Brain cerebrospinal fluid pathway | false | Inferred relationship | Some | 13 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | localisation d'une constatation (attribut) | Cerebellar vermis structure | false | Inferred relationship | Some | 9 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | morphologie associée (attribut) | Aplasia | false | Inferred relationship | Some | 9 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | morphologie associée (attribut) | Congenital enlargement (morphologic abnormality) | false | Inferred relationship | Some | 11 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | localisation d'une constatation (attribut) | Entire head | false | Inferred relationship | Some | 11 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | localisation d'une constatation (attribut) | Structure of visual system (body structure) | false | Inferred relationship | Some | 8 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | morphologie associée (attribut) | Congenital cavitation (morphologic abnormality) | false | Inferred relationship | Some | 7 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | localisation d'une constatation (attribut) | Infratentorial brain structure | false | Inferred relationship | Some | 7 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets