Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4603870014 | Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4603871013 | PMSE (polyhydramnios, megalencephaly, symptomatic epilepsy) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4603872018 | Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 13117201000146113 | syndroom van polyhydramnion, megalencefalie en symptomatische epilepsie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13117211000146110 | syndroom van polyhydramnion, megalencefalie en symptomatische epilepsie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13117241000146111 | syndroom van polyhydramnion, macrencefalie en symptomatische epilepsie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13302521000146111 | PMSE-syndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 4603873011 | A rare genetic neurological disorder with characteristics of pregnancy complicated by polyhydramnios, severe intractable epilepsy presenting in infancy, severe hypotonia, decreased muscle mass, global developmental delay, craniofacial dysmorphism (long face, large forehead, peaked eyebrows, broad nasal bridge, hypertelorism, large mouth with thick lips), and macrocephaly due to megalencephaly and hydrocephalus in most patients. Additional features that have been reported include cardiac anomalies like atrial septal defects, diabetes insipidus and nephrocalcinosis among others. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) | Is a | therapieresistente epilepsie | false | Inferred relationship | Some | ||
| Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
| Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) | Occurrence | Infancy | true | Inferred relationship | Some | 2 | |
| Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) | Finding site | Cerebrum | true | Inferred relationship | Some | 2 | |
| Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 3 | |
| Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 4 | |
| Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
| Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) | Is a | Epilepsy | true | Inferred relationship | Some | ||
| Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) | Is a | Congenital neurological disorder (disorder) | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR