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 |
3423988014 | Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3423989018 | Microcephaly, seizure, intellectual disability, heart disease syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3423990010 | This syndrome has characteristics of intellectual deficit, a cardiac anomaly, micropenis, hypothyroidism, epileptic seizures and skeletal anomalies. It has been described in two males. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 2 | |
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) | localisation d'une constatation (attribut) | structure de l'encéphale | false | Inferred relationship | Some | 1 | |
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) | localisation d'une constatation (attribut) | cœur | true | Inferred relationship | Some | 2 | |
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) | morphologie associée (attribut) | Congenital smallness | true | Inferred relationship | Some | 1 | |
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 3 | |
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) | interprète (attribut) | Birth head circumference | true | Inferred relationship | Some | 3 | |
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) | localisation d'une constatation (attribut) | structure de la tête | true | Inferred relationship | Some | 1 | |
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) | est un(e) (attribut) | Congenital microcephaly (disorder) | true | Inferred relationship | Some | ||
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) | est un(e) (attribut) | microcéphalie | false | Inferred relationship | Some | ||
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) | est un(e) (attribut) | maladie cardiaque congénitale | true | Inferred relationship | Some | ||
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) | est un(e) (attribut) | anomalie congénitale de l'encéphale | false | Inferred relationship | Some | ||
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) | est un(e) (attribut) | syndrome de malformations multisystémiques | true | Inferred relationship | Some | ||
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) | est un(e) (attribut) | Mental retardation | false | Inferred relationship | Some | ||
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) | est un(e) (attribut) | trouble convulsif | true | Inferred relationship | Some | ||
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) | est défini par la manifestation de (attribut) | convulsion | false | Inferred relationship | Some | ||
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 3 | |
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 4 | |
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 3 | |
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) | localisation d'une constatation (attribut) | cœur | false | Inferred relationship | Some | 3 | |
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) | morphologie associée (attribut) | Congenital smallness | false | Inferred relationship | Some | 4 | |
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) | localisation d'une constatation (attribut) | structure de l'encéphale | true | Inferred relationship | Some | 4 | |
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets