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 |
| 3323444010 | Developmental delay, epilepsy, neonatal diabetes syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3323445011 | Developmental delay, epilepsy, neonatal diabetes syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3323446012 | DEND syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3323447015 | DEND (developmental delay, epilepsy, neonatal diabetes) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3323448013 | A very rare, generally severe form of neonatal diabetes mellitus with characteristics of a triad of developmental delay, epilepsy, and neonatal diabetes. Fewer than 40 cases have been reported to date. DEND syndrome represents the most severe end of the neonatal diabetes mellitus spectrum. The associated neurologic features range from mild psychomotor retardation to severe developmental delay. Patients also have therapy-resistant epilepsy and muscle hypotonia. Caused in most cases by gain of channel function mutations in the KCNJ11 gene (11p15.1), encoding a subunit of the ATP-sensitive potassium (KATP) channel. Rare reports of specific mutations in the ABCC8 gene (11p15.1) have also been associated with DEND. The pattern of inheritance of DEND syndrome is either de novo mutation, dominant, or very rarely recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Developmental delay, epilepsy, neonatal diabetes syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Developmental delay, epilepsy, neonatal diabetes syndrome (disorder) | est un(e) (attribut) | diabète néonatal (trouble) | true | Inferred relationship | Some | ||
| Developmental delay, epilepsy, neonatal diabetes syndrome (disorder) | est un(e) (attribut) | Epilepsy | true | Inferred relationship | Some | ||
| Developmental delay, epilepsy, neonatal diabetes syndrome (disorder) | est un(e) (attribut) | retard de développement | true | Inferred relationship | Some | ||
| Developmental delay, epilepsy, neonatal diabetes syndrome (disorder) | survenue (attribut) | Infancy (qualifier value) | true | Inferred relationship | Some | 1 | |
| Developmental delay, epilepsy, neonatal diabetes syndrome (disorder) | localisation d'une constatation (attribut) | structure du cerveau | true | Inferred relationship | Some | 3 | |
| Developmental delay, epilepsy, neonatal diabetes syndrome (disorder) | localisation d'une constatation (attribut) | Structure of endocrine system (body structure) | true | Inferred relationship | Some | 2 | |
| Developmental delay, epilepsy, neonatal diabetes syndrome (disorder) | est défini par la manifestation de (attribut) | convulsion | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR