Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3638651013 | Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3638652018 | Autosomal recessive intellectual disability due to TRAPPC9 (trafficking protein particle complex 9) deficiency | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 3638653011 | Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 3638654017 | A rare syndromic intellectual disability with primary characteristics of moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
| Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 2 | |
| Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome | Has interpretation | Above reference range | true | Inferred relationship | Some | 3 | |
| Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome | Interprets | Intellectual ability | true | Inferred relationship | Some | 4 | |
| Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
| Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome | Interprets | Adaptation behaviour | true | Inferred relationship | Some | 5 | |
| Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
| Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome | Is a | Congenital anomaly of brain | true | Inferred relationship | Some | ||
| Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome | Is a | Obesity | true | Inferred relationship | Some | ||
| Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome | Associated morphology | Developmental abnormality | false | Inferred relationship | Some | 2 | |
| Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
| Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome | Associated morphology | Developmental abnormality | false | Inferred relationship | Some | 1 | |
| Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome | Finding site | Brain structure | true | Inferred relationship | Some | 2 | |
| Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome | Finding site | Brain structure | false | Inferred relationship | Some | 1 | |
| Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome | Finding site | Face structure | false | Inferred relationship | Some | 2 | |
| Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome | Interprets | Body weight measure | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR