Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3644032013 | Microcephalus, complex motor and sensory axonal neuropathy syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3644033015 | Microcephaly, complex motor and sensory axonal neuropathy syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3644034014 | Microcephalus, complex motor and sensory axonal neuropathy syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3644037019 | An extremely rare subtype of hereditary motor and sensory neuropathy with characteristics of severe, rapidly progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Microcephalus, complex motor and sensory axonal neuropathy syndrome | Pathological process | Pathological developmental process | false | Inferred relationship | Some | 2 | |
Microcephalus, complex motor and sensory axonal neuropathy syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Microcephalus, complex motor and sensory axonal neuropathy syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Microcephalus, complex motor and sensory axonal neuropathy syndrome | Interprets | Birth head circumference | true | Inferred relationship | Some | 2 | |
Microcephalus, complex motor and sensory axonal neuropathy syndrome | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 3 | |
Microcephalus, complex motor and sensory axonal neuropathy syndrome | Finding site | Structure of head | true | Inferred relationship | Some | 1 | |
Microcephalus, complex motor and sensory axonal neuropathy syndrome | Has interpretation | Below reference range | true | Inferred relationship | Some | 2 | |
Microcephalus, complex motor and sensory axonal neuropathy syndrome | Is a | Congenital microcephaly | true | Inferred relationship | Some | ||
Microcephalus, complex motor and sensory axonal neuropathy syndrome | Is a | Microcephalus | false | Inferred relationship | Some | ||
Microcephalus, complex motor and sensory axonal neuropathy syndrome | Is a | Congenital anomaly of brain | false | Inferred relationship | Some | ||
Microcephalus, complex motor and sensory axonal neuropathy syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Microcephalus, complex motor and sensory axonal neuropathy syndrome | Is a | Hereditary motor and sensory neuropathy | true | Inferred relationship | Some | ||
Microcephalus, complex motor and sensory axonal neuropathy syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
Microcephalus, complex motor and sensory axonal neuropathy syndrome | Finding site | Peripheral nervous system structure | false | Inferred relationship | Some | 2 | |
Microcephalus, complex motor and sensory axonal neuropathy syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Microcephalus, complex motor and sensory axonal neuropathy syndrome | Associated morphology | Congenital smallness | true | Inferred relationship | Some | 1 | |
Microcephalus, complex motor and sensory axonal neuropathy syndrome | Finding site | Brain structure | false | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
Description inactivation indicator reference set