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 |
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 |
4012131000052118 | syndrom med ansiktsmissbildning, makrocefali, myopi och Dandy-Walkers missbildning | sv | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Is a | Dandy-Walker syndrome | true | Inferred relationship | Some | ||
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Is a | makrocefali | false | Inferred relationship | Some | ||
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Is a | Severe myopia | true | Inferred relationship | Some | ||
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Is a | mental retardation | false | Inferred relationship | Some | ||
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 7 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 8 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 9 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Associated morphology | kongenital kavitet | false | Inferred relationship | Some | 10 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Finding site | Infratentorial brain structure (body structure) | false | Inferred relationship | Some | 10 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 13 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 11 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Finding site | Cerebellar vermis structure | false | Inferred relationship | Some | 12 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Associated morphology | kongenital anomali | false | Inferred relationship | Some | 12 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Finding site | Lateral aperture of fourth ventricle | false | Inferred relationship | Some | 12 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Finding site | Foramen of Magendie | false | Inferred relationship | Some | 12 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Associated morphology | utvecklingsabnormitet | false | Inferred relationship | Some | 7 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Finding site | Face structure | false | Inferred relationship | Some | 7 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Associated morphology | kongenital dilatation | false | Inferred relationship | Some | 13 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Finding site | Brain cerebrospinal fluid pathway | false | Inferred relationship | Some | 13 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Finding site | Cerebellar vermis structure | false | Inferred relationship | Some | 9 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Associated morphology | Aplasia | false | Inferred relationship | Some | 9 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Associated morphology | medfödd förstoring | false | Inferred relationship | Some | 11 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Finding site | Entire head | false | Inferred relationship | Some | 11 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Finding site | Structure of visual system (body structure) | false | Inferred relationship | Some | 8 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Associated morphology | kongenital kavitet | false | Inferred relationship | Some | 7 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Finding site | Infratentorial brain structure (body structure) | false | Inferred relationship | Some | 7 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Occurrence | Congenital | 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) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Finding site | 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) | Finding site | 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) | Associated morphology | medfödd förstoring | false | Inferred relationship | Some | 1 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 3 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Finding site | Structure of visual system (body structure) | true | Inferred relationship | Some | 2 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Associated morphology | kongenital kavitet | false | Inferred relationship | Some | 6 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 5 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Finding site | Fourth ventricle structure | false | Inferred relationship | Some | 6 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Associated morphology | Congenital malrotation (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Finding site | Cerebellar vermis structure | true | Inferred relationship | Some | 4 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Associated morphology | Cystic dilatation (morphologic abnormality) | true | Inferred relationship | Some | 6 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Associated morphology | Enlargement (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Associated morphology | Cystic dilatation (morphologic abnormality) | true | Inferred relationship | Some | 7 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Finding site | Fourth ventricle structure | true | Inferred relationship | Some | 7 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Finding site | Infratentorial brain structure (body structure) | true | Inferred relationship | Some | 6 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Is a | Congenital macrocephaly (disorder) | true | Inferred relationship | Some | ||
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Has interpretation | Above reference range | true | Inferred relationship | Some | 8 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) | Interprets | Head circumference | true | Inferred relationship | Some | 8 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets