Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3331131011 | Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3331132016 | Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3331133014 | Pai syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3331134015 | An idiopathic developmental disorder with characteristics of median cleft of the upper lip, midline polyps of the facial skin and nasal mucosa and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development. Presents at birth with a variable phenotype ranging from mild facial dysmorphism to more severe anomalies resembling frontonasal dysplasia. Normal neuropsychological development was reported in all but one case that presented with epileptic seizures. Sacral dimples may be observed at birth, and hypospadias has been reported in some male patients. | en | Definition | Active | Case sensitive | SNOMED CT core |
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
Musculoskeletal finding reference set
Neoplasm and/or hamartoma reference set
Problem/Diagnosis reference set
Description inactivation indicator reference set