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 |
3330269015 | Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3330270019 | Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3330271015 | MPPH syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3330272010 | MPPH (megalencephaly, polymicrogyria, polydactyly, hydrocephalus) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3330273017 | This syndrome has characteristics of megalencephaly, polymicrogyria and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | localisation d'une constatation (attribut) | Entire brain | false | Inferred relationship | Some | 2 | |
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | morphologie associée (attribut) | Congenital enlargement (morphologic abnormality) | false | Inferred relationship | Some | 2 | |
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | localisation d'une constatation (attribut) | Brain cerebrospinal fluid pathway | true | Inferred relationship | Some | 1 | |
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | morphologie associée (attribut) | Congenital dilatation (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | morphologie associée (attribut) | dilatation | true | Inferred relationship | Some | 1 | |
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | morphologie associée (attribut) | Enlargement (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | localisation d'une constatation (attribut) | structure du cerveau | true | Inferred relationship | Some | 2 | |
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | est un(e) (attribut) | microgyrie (trouble) | true | Inferred relationship | Some | ||
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | est un(e) (attribut) | Macroencephaly | true | Inferred relationship | Some | ||
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | est un(e) (attribut) | hydrocéphalie congénitale | true | Inferred relationship | Some | ||
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | est un(e) (attribut) | syndrome de malformations multisystémiques | true | Inferred relationship | Some | ||
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | morphologie associée (attribut) | Congenital enlargement (morphologic abnormality) | false | Inferred relationship | Some | 3 | |
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | localisation d'une constatation (attribut) | Entire brain | false | Inferred relationship | Some | 3 | |
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 4 | |
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 5 | |
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | morphologie associée (attribut) | Congenital smallness | false | Inferred relationship | Some | 5 | |
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | localisation d'une constatation (attribut) | Structure of gyrus of brain (body structure) | false | Inferred relationship | Some | 5 | |
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | morphologie associée (attribut) | Congenital smallness | true | Inferred relationship | Some | 3 | |
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | localisation d'une constatation (attribut) | Structure of gyrus of brain (body structure) | true | Inferred relationship | Some | 3 | |
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | morphologie associée (attribut) | Congenital dilatation (morphologic abnormality) | false | Inferred relationship | Some | 4 | |
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | localisation d'une constatation (attribut) | Brain cerebrospinal fluid pathway | false | Inferred relationship | Some | 4 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets