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 |
3498678018 | Stimmler syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
3498679014 | Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
3498680012 | Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive | SNOMED CT core module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Is a | Microcephalus | false | Inferred relationship | Existential restriction modifier | ||
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Is a | Enamel hypoplasia | true | Inferred relationship | Existential restriction modifier | ||
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Is a | Congenital anomaly of brain | false | Inferred relationship | Existential restriction modifier | ||
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Existential restriction modifier | ||
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Is a | Diabetes mellitus | true | Inferred relationship | Existential restriction modifier | ||
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Is a | Mental retardation | false | Inferred relationship | Existential restriction modifier | ||
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Is a | Short stature disorder | true | Inferred relationship | Existential restriction modifier | ||
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Is a | Disorder of amino acid and organic acid metabolism | true | Inferred relationship | Existential restriction modifier | ||
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Is a | Digestive system hereditary disorder | false | Inferred relationship | Existential restriction modifier | ||
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Is a | Hereditary disorder of endocrine system | true | Inferred relationship | Existential restriction modifier | ||
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Existential restriction modifier | ||
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Is a | Congenital anomaly of tooth | false | Inferred relationship | Existential restriction modifier | ||
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 3 | |
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 4 | |
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Associated morphology | Congenital smallness | false | Inferred relationship | Existential restriction modifier | 5 | |
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier | 5 | |
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Finding site | Brain structure | false | Inferred relationship | Existential restriction modifier | 5 | |
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Associated morphology | Congenital smallness | false | Inferred relationship | Existential restriction modifier | 3 | |
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Finding site | Brain structure | false | Inferred relationship | Existential restriction modifier | 3 | |
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Finding site | Structure of endocrine system | false | Inferred relationship | Existential restriction modifier | 4 | |
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Associated morphology | Congenital hypoplasia | false | Inferred relationship | Existential restriction modifier | 3 | |
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Finding site | Enamel structure | false | Inferred relationship | Existential restriction modifier | 3 | |
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Is a | Intellectual disability | true | Inferred relationship | Existential restriction modifier | ||
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 2 | |
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 2 | |
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 3 | |
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Finding site | Enamel structure | true | Inferred relationship | Existential restriction modifier | 2 | |
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 1 | |
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Finding site | Structure of endocrine system | false | Inferred relationship | Existential restriction modifier | 1 | |
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Associated morphology | Hypoplasia | true | Inferred relationship | Existential restriction modifier | 2 | |
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Existential restriction modifier | 4 | |
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 4 | |
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Finding site | Face structure | true | Inferred relationship | Existential restriction modifier | 4 | |
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Is a | Developmental hereditary disorder | false | Inferred relationship | Existential restriction modifier | ||
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Interprets | Height / growth measure | true | Inferred relationship | Existential restriction modifier | 5 | |
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Finding site | Structure of endocrine system | true | Inferred relationship | Existential restriction modifier | 3 | |
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Associated morphology | Congenital smallness | true | Inferred relationship | Existential restriction modifier | 1 | |
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Has interpretation | Below reference range | true | Inferred relationship | Existential restriction modifier | 6 | |
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Interprets | Birth head circumference | true | Inferred relationship | Existential restriction modifier | 6 | |
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Finding site | Head structure | true | Inferred relationship | Existential restriction modifier | 1 | |
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Is a | Congenital microcephaly | true | Inferred relationship | Existential restriction modifier | ||
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Is a | Amelogenesis imperfecta | true | Inferred relationship | Existential restriction modifier | ||
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Has interpretation | Below reference range | true | Inferred relationship | Existential restriction modifier | 5 | |
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Interprets | Intellectual ability | true | Inferred relationship | Existential restriction modifier | 7 | |
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 7 | |
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Interprets | Adaptation behavior | true | Inferred relationship | Existential restriction modifier | 8 | |
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 8 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets