Status: current, Primitive. Date: 30-Nov 2021. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
4669923010 | Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
4669924016 | Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
4669925015 | Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
4669926019 | A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterised by mild global developmental delay, intellectual disability or learning difficulties, behavioural problems (like autistic, hyperactive, or aggressive behaviour), variable dysmorphic craniofacial features and abnormalities of the fingers (brachydactyly, tapering fingers, prominent interphalangeal joints). Additional manifestations are highly variable and include recurrent infections and skeletal anomalies among others. | en | Definition | Active | Case sensitive | SNOMED CT core |
4669927011 | A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by mild global developmental delay, intellectual disability or learning difficulties, behavioral problems (like autistic, hyperactive, or aggressive behavior), variable dysmorphic craniofacial features and abnormalities of the fingers (brachydactyly, tapering fingers, prominent interphalangeal joints). Additional manifestations are highly variable and include recurrent infections and skeletal anomalies among others. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome | Is a | Congenital anomaly of finger | true | Inferred relationship | Some | ||
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome | Is a | Multiple malformation syndrome with facial-limb defects as major feature | true | Inferred relationship | Some | ||
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome | Finding site | Finger structure | true | Inferred relationship | Some | 1 | |
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome | Finding site | Face structure | true | Inferred relationship | Some | 2 | |
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 2 | |
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome | Interprets | Intellectual ability | true | Inferred relationship | Some | 3 | |
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome | Interprets | Adaptation behaviour | true | Inferred relationship | Some | 4 | |
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 4 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Clinical finding foundation reference set
Problem/Diagnosis reference set