Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3322761016 | Shokeir syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3330983011 | Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3331041011 | Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3332246010 | Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3322762011 | Syndrome characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontal pyorrhea. Total permanent alopecia and periodontal pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant. | en | Definition | Active | Case sensitive | SNOMED CT core |
3322763018 | Syndrome characterised by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontal pyorrhoea. Total permanent alopecia and periodontal pyorrhoea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome | Associated morphology | Congenital absence | false | Inferred relationship | Some | 2 | |
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome | Is a | Congenital anomaly of mouth | false | Inferred relationship | Some | ||
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome | Is a | Congenital anomaly of digestive organ | true | Inferred relationship | Some | ||
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome | Is a | Congenital anomaly of jaw | true | Inferred relationship | Some | ||
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome | Finding site | Hair structure | true | Inferred relationship | Some | 2 | |
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome | Finding site | Periodontal tissues structure | true | Inferred relationship | Some | 1 | |
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome | Associated morphology | Inflammation | false | Inferred relationship | Some | 1 | |
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome | Is a | Congenital abnormality of oral cavity | true | Inferred relationship | Some | ||
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome | Associated morphology | Inflammatory morphology | true | Inferred relationship | Some | 1 | |
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome | Associated morphology | Absence | true | Inferred relationship | Some | 2 | |
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome | Is a | Developmental anomaly of periodontal tissue | true | Inferred relationship | Some | ||
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome | Is a | Hereditary disorder of immune system | true | Inferred relationship | Some | ||
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome | Finding site | Hair structure | true | Inferred relationship | Some | 3 | |
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome | Associated morphology | Absence | true | Inferred relationship | Some | 3 | |
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome | Pathological process | Autoimmune process | true | Inferred relationship | Some | 3 | |
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome | Is a | Congenital alopecia | true | Inferred relationship | Some | ||
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome | Is a | Alopecia universalis | true | Inferred relationship | Some | ||
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome | Is a | Periodontitis co-occurrent with genetic disorder | true | Inferred relationship | Some | ||
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome | Finding site | Skin structure | false | Inferred relationship | Some | ||
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome | Associated morphology | Congenital absence | false | Inferred relationship | Some | 4 | |
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome | Finding site | Hair structure | false | Inferred relationship | Some | 4 | |
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome | Associated morphology | Inflammation | false | Inferred relationship | Some | 5 | |
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome | Finding site | Periodontal tissues structure | false | Inferred relationship | Some | 5 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set