Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3644107013 | Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3644108015 | Porencephaly, cerebellar hypoplasia, internal malformations syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3644109011 | Bonnemann Meinecke syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3644738015 | A rare central nervous system malformation syndrome with characteristics of bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder) | morphologie associée (attribut) | Cystic dilatation | true | Inferred relationship | Some | 1 | |
Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder) | est un(e) (attribut) | Congenital absence of part of brain | true | Inferred relationship | Some | ||
Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder) | est un(e) (attribut) | Congenital cerebellar hypoplasia | true | Inferred relationship | Some | ||
Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder) | est un(e) (attribut) | porencéphalie congénitale (trouble) | true | Inferred relationship | Some | ||
Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder) | est un(e) (attribut) | syndrome de malformations multisystémiques | true | Inferred relationship | Some | ||
Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder) | est un(e) (attribut) | absence du vermis | true | Inferred relationship | Some | ||
Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder) | morphologie associée (attribut) | Absence (morphologic abnormality) | false | Inferred relationship | Some | 3 | |
Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder) | localisation d'une constatation (attribut) | Cerebellar vermis structure | false | Inferred relationship | Some | 3 | |
Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder) | morphologie associée (attribut) | Hypoplasia (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder) | localisation d'une constatation (attribut) | structure cérébelleuse | true | Inferred relationship | Some | 3 | |
Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder) | morphologie associée (attribut) | Hypoplasia (morphologic abnormality) | false | Inferred relationship | Some | 2 | |
Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder) | localisation d'une constatation (attribut) | structure de l'encéphale | true | Inferred relationship | Some | 1 | |
Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder) | morphologie associée (attribut) | Congenital cavitation (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder) | localisation d'une constatation (attribut) | structure cérébelleuse | false | Inferred relationship | Some | 2 | |
Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder) | morphologie associée (attribut) | Absence (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder) | localisation d'une constatation (attribut) | Cerebellar vermis structure | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets