Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3322761016 | Shokeir syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3330983011 | Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3331041011 | Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3332246010 | Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5402546013 | A rare genetic syndromic intellectual disability that is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402547016 | A rare genetic syndromic intellectual disability that is characterised by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhoea). Total permanent alopecia and 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | Is a | Congenital alopecia | true | Inferred relationship | Some | ||
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | Is a | Alopecia universalis | true | Inferred relationship | Some | ||
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | Is a | Periodontitis co-occurrent with genetic disorder (disorder) | true | Inferred relationship | Some | ||
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | ||
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | Associated morphology | Congenital absence (morphologic abnormality) | false | Inferred relationship | Some | 4 | |
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | Finding site | Hair structure (body structure) | false | Inferred relationship | Some | 4 | |
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | Associated morphology | Inflammation | false | Inferred relationship | Some | 5 | |
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | Finding site | Periodontal tissues structure | false | Inferred relationship | Some | 5 | |
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | Associated morphology | Congenital absence (morphologic abnormality) | false | Inferred relationship | Some | 2 | |
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | Is a | Congenital anomaly of mouth | false | Inferred relationship | Some | ||
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | Is a | Congenital anomaly of digestive organ | true | Inferred relationship | Some | ||
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | Is a | Congenital anomaly of jaw | true | Inferred relationship | Some | ||
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | Finding site | Hair structure (body structure) | true | Inferred relationship | Some | 2 | |
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | Finding site | Periodontal tissues structure | true | Inferred relationship | Some | 1 | |
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | Associated morphology | Inflammation | false | Inferred relationship | Some | 1 | |
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | Is a | Congenital abnormality of oral cavity | true | Inferred relationship | Some | ||
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | Associated morphology | Inflammatory morphology (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | Associated morphology | Absence (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | Is a | Developmental anomaly of periodontal tissue | true | Inferred relationship | Some | ||
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | Is a | Hereditary disorder of immune system | true | Inferred relationship | Some | ||
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | Finding site | Hair structure (body structure) | true | Inferred relationship | Some | 3 | |
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | Associated morphology | Absence (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | Pathological process (attribute) | Autoimmune process | true | Inferred relationship | Some | 3 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)