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 |
| 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 | Entire term case sensitive (core metadata concept) | 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 | 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) | morphologie associée (attribut) | Congenital absence | false | Inferred relationship | Some | 2 | |
| Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | survenue (attribut) | congénital | 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) | est un(e) (attribut) | Congenital anomaly of mouth | false | Inferred relationship | Some | ||
| Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of digestive organ | true | Inferred relationship | Some | ||
| Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of jaw | true | Inferred relationship | Some | ||
| Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | Hair structure (body structure) | true | Inferred relationship | Some | 2 | |
| Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | 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) | morphologie associée (attribut) | inflammation | false | Inferred relationship | Some | 1 | |
| Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | est un(e) (attribut) | Congenital abnormality of oral cavity | true | Inferred relationship | Some | ||
| Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | morphologie associée (attribut) | Inflammatory morphology (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | morphologie associée (attribut) | Absence (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | est un(e) (attribut) | Developmental anomaly of periodontal tissue | true | Inferred relationship | Some | ||
| Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of immune system | true | Inferred relationship | Some | ||
| Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | Hair structure (body structure) | true | Inferred relationship | Some | 3 | |
| Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | morphologie associée (attribut) | 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 | |
| Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | est un(e) (attribut) | Congenital alopecia | true | Inferred relationship | Some | ||
| Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | est un(e) (attribut) | pelade universelle | true | Inferred relationship | Some | ||
| Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | est un(e) (attribut) | Periodontitis co-occurrent with genetic disorder (disorder) | true | Inferred relationship | Some | ||
| Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | structure de la peau | false | Inferred relationship | Some | ||
| Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 4 | |
| Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 5 | |
| Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | morphologie associée (attribut) | Congenital absence | false | Inferred relationship | Some | 4 | |
| Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | Hair structure (body structure) | false | Inferred relationship | Some | 4 | |
| Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | morphologie associée (attribut) | inflammation | false | Inferred relationship | Some | 5 | |
| Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | Periodontal tissues structure | false | Inferred relationship | Some | 5 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR