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 |
14001981000172117 | syndrome MPPH (mégalencéphalie, polymicrogyrie, polydactylie post-axiale, hydrocéphalie) | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
14001991000172119 | syndrome de mégalencéphalie, polymicrogyrie, polydactylie post-axiale et hydrocéphalie | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
4065711000172114 | syndroom van macrencefalie, polymicrogyrie, postaxiale polydactylie en hydrocephalus | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
4065721000172116 | MPPH-syndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
4065731000172118 | syndroom van megalencefalie, polymicrogyrie, postaxiale polydactylie en hydrocefalie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | Is a | Microgyria | true | Inferred relationship | Some | ||
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | Is a | Macroencephaly | true | Inferred relationship | Some | ||
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | Is a | Congenital hydrocephalus | true | Inferred relationship | Some | ||
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | Associated morphology | Congenital enlargement | false | Inferred relationship | Some | 3 | |
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | Finding site | Entire brain | false | Inferred relationship | Some | 3 | |
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 5 | |
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | Finding site | Structure of gyrus of brain (body structure) | false | Inferred relationship | Some | 5 | |
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | Associated morphology | Congenital smallness | true | Inferred relationship | Some | 3 | |
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | Finding site | Structure of gyrus of brain (body structure) | true | Inferred relationship | Some | 3 | |
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | Associated morphology | Congenital dilatation | false | Inferred relationship | Some | 4 | |
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | Finding site | Brain cerebrospinal fluid pathway | false | Inferred relationship | Some | 4 | |
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | Finding site | 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) | Associated morphology | Congenital enlargement | 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) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | Finding site | 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) | Associated morphology | Congenital dilatation | false | Inferred relationship | Some | 1 | |
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | Associated morphology | Dilatation | true | Inferred relationship | Some | 1 | |
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | Associated morphology | Enlargement (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) | Finding site | Cerebrum | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets