Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3472803011 | Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3472804017 | Autism spectrum disorder, epilepsy, arthrogryposis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3472805016 | SLC35A3-CDG - solute carrier family 35 member A3 congenital disorder of glycosylation | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 763401000241116 | syndrome d'arthrogrypose-épilepsie-trouble du spectre de l'autisme (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 915181000172116 | syndrome d'arthrogrypose-épilepsie-trouble du spectre de l'autisme | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 949331000172114 | SLC35A3-CDG - syndrome d'arthrogrypose, épilepsie, trouble du spectre de l'autisme | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3472806015 | A form of congenital disorders of N-linked glycosylation with characteristics of distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retro-micrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder) | interprète (attribut) | Range of joint movement | true | Inferred relationship | Some | 3 | |
| Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder) | a pour interprétation (attribut) | Decreased | true | Inferred relationship | Some | 3 | |
| Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder) | localisation d'une constatation (attribut) | Structure of joint region | true | Inferred relationship | Some | 1 | |
| Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder) | morphologie associée (attribut) | Contracture (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder) | est un(e) (attribut) | Inherited metabolic disorder of nervous system | true | Inferred relationship | Some | ||
| Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder) | est un(e) (attribut) | Distal arthrogryposis syndrome | true | Inferred relationship | Some | ||
| Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder) | est un(e) (attribut) | Epilepsy | true | Inferred relationship | Some | ||
| Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder) | est un(e) (attribut) | Disorder of glycoprotein metabolism | true | Inferred relationship | Some | ||
| Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder) | est un(e) (attribut) | Autistic disorder (disorder) | true | Inferred relationship | Some | ||
| Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder) | est défini par la manifestation de (attribut) | convulsion | false | Inferred relationship | Some | ||
| Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 3 | |
| Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 4 | |
| Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder) | morphologie associée (attribut) | Contracture (morphologic abnormality) | false | Inferred relationship | Some | 3 | |
| Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder) | localisation d'une constatation (attribut) | structure articulaire | false | Inferred relationship | Some | 3 | |
| Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder) | localisation d'une constatation (attribut) | structure du cerveau | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
Description inactivation indicator reference set
FHIR