Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2017. Module: SNOMED CT core module
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 | SNOMED CT core module |
3499397016 | Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Is a | Dandy-Walker syndrome | true | Inferred relationship | Existential restriction modifier | ||
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Is a | Macrocephaly | false | Inferred relationship | Existential restriction modifier | ||
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Is a | Severe myopia | true | Inferred relationship | Existential restriction modifier | ||
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Existential restriction modifier | ||
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Is a | Mental retardation | false | Inferred relationship | Existential restriction modifier | ||
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Existential restriction modifier | ||
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Is a | Hereditary disorder of the visual system | true | Inferred relationship | Existential restriction modifier | ||
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 7 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier | 8 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier | 9 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Associated morphology | Congenital cavitation | false | Inferred relationship | Existential restriction modifier | 10 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Finding site | Infratentorial brain structure | false | Inferred relationship | Existential restriction modifier | 10 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier | 13 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier | 11 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Finding site | Cerebellar vermis structure | false | Inferred relationship | Existential restriction modifier | 12 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Associated morphology | Congenital anomaly | false | Inferred relationship | Existential restriction modifier | 12 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Finding site | Structure of lateral aperture of fourth ventricle | false | Inferred relationship | Existential restriction modifier | 12 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Finding site | Structure of foramen of Magendie | false | Inferred relationship | Existential restriction modifier | 12 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Associated morphology | Developmental anomaly | false | Inferred relationship | Existential restriction modifier | 7 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Finding site | Face structure | false | Inferred relationship | Existential restriction modifier | 7 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Associated morphology | Congenital dilatation | false | Inferred relationship | Existential restriction modifier | 13 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Finding site | Structure of brain cerebrospinal fluid pathway | false | Inferred relationship | Existential restriction modifier | 13 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Finding site | Cerebellar vermis structure | false | Inferred relationship | Existential restriction modifier | 9 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Associated morphology | Aplasia | false | Inferred relationship | Existential restriction modifier | 9 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Associated morphology | Congenital enlargement | false | Inferred relationship | Existential restriction modifier | 11 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Finding site | Entire head | false | Inferred relationship | Existential restriction modifier | 11 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Finding site | Structure of visual system | false | Inferred relationship | Existential restriction modifier | 8 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Associated morphology | Congenital cavitation | false | Inferred relationship | Existential restriction modifier | 7 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Finding site | Infratentorial brain structure | false | Inferred relationship | Existential restriction modifier | 7 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Is a | Intellectual disability | true | Inferred relationship | Existential restriction modifier | ||
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 6 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 6 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Pathological process | Pathological developmental process | false | Inferred relationship | Existential restriction modifier | 1 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 2 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Finding site | Entire head | false | Inferred relationship | Existential restriction modifier | 1 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 7 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 2 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 5 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Finding site | Cerebellar vermis structure | true | Inferred relationship | Existential restriction modifier | 5 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 4 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 3 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Associated morphology | Congenital enlargement | false | Inferred relationship | Existential restriction modifier | 1 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier | 1 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 3 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 4 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Finding site | Face structure | true | Inferred relationship | Existential restriction modifier | 3 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Finding site | Structure of visual system | true | Inferred relationship | Existential restriction modifier | 2 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Existential restriction modifier | 3 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 5 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Associated morphology | Congenital cavitation | false | Inferred relationship | Existential restriction modifier | 6 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Associated morphology | Hypoplasia | true | Inferred relationship | Existential restriction modifier | 5 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Finding site | Fourth ventricle structure | false | Inferred relationship | Existential restriction modifier | 6 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Associated morphology | Congenital malrotation | true | Inferred relationship | Existential restriction modifier | 4 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Finding site | Cerebellar vermis structure | true | Inferred relationship | Existential restriction modifier | 4 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Associated morphology | Cystic dilatation | true | Inferred relationship | Existential restriction modifier | 6 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Associated morphology | Enlargement | false | Inferred relationship | Existential restriction modifier | 1 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Associated morphology | Cystic dilatation | true | Inferred relationship | Existential restriction modifier | 7 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Finding site | Fourth ventricle structure | true | Inferred relationship | Existential restriction modifier | 7 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Finding site | Infratentorial brain structure | true | Inferred relationship | Existential restriction modifier | 6 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Is a | Congenital macrocephaly | true | Inferred relationship | Existential restriction modifier | ||
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Has interpretation | Above reference range | true | Inferred relationship | Existential restriction modifier | 8 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Interprets | Head circumference | true | Inferred relationship | Existential restriction modifier | 8 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Interprets | Intellectual ability | true | Inferred relationship | Existential restriction modifier | 1 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 1 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Interprets | Adaptation behavior | true | Inferred relationship | Existential restriction modifier | 9 | |
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 9 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets