Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3702446016 | Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3702447013 | Intellectual disability, seizures, macrocephaly, obesity syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3702448015 | A rare syndromic obesity due to complex chromosomal rearrangement with characteristics of development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Intellectual disability, seizures, macrocephaly, obesity syndrome | Finding site | Sex chromosome X | true | Inferred relationship | Some | 3 | |
Intellectual disability, seizures, macrocephaly, obesity syndrome | Associated morphology | Chromosomal morphology | true | Inferred relationship | Some | 3 | |
Intellectual disability, seizures, macrocephaly, obesity syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Intellectual disability, seizures, macrocephaly, obesity syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Intellectual disability, seizures, macrocephaly, obesity syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Intellectual disability, seizures, macrocephaly, obesity syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 2 | |
Intellectual disability, seizures, macrocephaly, obesity syndrome | Associated morphology | Enlargement | true | Inferred relationship | Some | 1 | |
Intellectual disability, seizures, macrocephaly, obesity syndrome | Has interpretation | Above reference range | true | Inferred relationship | Some | 4 | |
Intellectual disability, seizures, macrocephaly, obesity syndrome | Is a | Congenital macrocephaly | true | Inferred relationship | Some | ||
Intellectual disability, seizures, macrocephaly, obesity syndrome | Interprets | Head circumference | true | Inferred relationship | Some | 6 | |
Intellectual disability, seizures, macrocephaly, obesity syndrome | Has interpretation | Above reference range | true | Inferred relationship | Some | 6 | |
Intellectual disability, seizures, macrocephaly, obesity syndrome | Finding site | Structure of head | true | Inferred relationship | Some | 1 | |
Intellectual disability, seizures, macrocephaly, obesity syndrome | Interprets | Intellectual ability | true | Inferred relationship | Some | 7 | |
Intellectual disability, seizures, macrocephaly, obesity syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 7 | |
Intellectual disability, seizures, macrocephaly, obesity syndrome | Interprets | Adaptation behaviour | true | Inferred relationship | Some | 8 | |
Intellectual disability, seizures, macrocephaly, obesity syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 8 | |
Intellectual disability, seizures, macrocephaly, obesity syndrome | Associated morphology | Congenital enlargement | false | Inferred relationship | Some | 1 | |
Intellectual disability, seizures, macrocephaly, obesity syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
Intellectual disability, seizures, macrocephaly, obesity syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Intellectual disability, seizures, macrocephaly, obesity syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Intellectual disability, seizures, macrocephaly, obesity syndrome | Is a | Anomaly of chromosome X | true | Inferred relationship | Some | ||
Intellectual disability, seizures, macrocephaly, obesity syndrome | Is a | Childhood obesity | true | Inferred relationship | Some | ||
Intellectual disability, seizures, macrocephaly, obesity syndrome | Finding site | Entire head | false | Inferred relationship | Some | 1 | |
Intellectual disability, seizures, macrocephaly, obesity syndrome | Interprets | Body weight measure | true | Inferred relationship | Some | 4 | |
Intellectual disability, seizures, macrocephaly, obesity syndrome | Occurrence | Childhood | true | Inferred relationship | Some | 5 | |
Intellectual disability, seizures, macrocephaly, obesity syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Intellectual disability, seizures, macrocephaly, obesity syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Intellectual disability, seizures, macrocephaly, obesity syndrome | Is a | Macrocephaly | false | Inferred relationship | Some | ||
Intellectual disability, seizures, macrocephaly, obesity syndrome | Finding site | Face structure | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Queensland allied health clinical finding reference set
Queensland allied health indicator for intervention reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set