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 |
3313323010 | Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3313324016 | Lissencephaly type 3 familial fetal akinesia sequence syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3313329014 | Lissencephaly type 3 familial foetal akinesia sequence syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3313330016 | This syndrome has characteristics of the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and fetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) | Is a | Lissencephaly | false | Inferred relationship | Some | ||
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 2 | |
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) | Finding site | Structure of central nervous system (body structure) | false | Inferred relationship | Some | 2 | |
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) | Associated morphology | Congenital anomaly | false | Inferred relationship | Some | 3 | |
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) | Finding site | Brain structure | false | Inferred relationship | Some | 3 | |
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) | Finding site | Brain structure | true | Inferred relationship | Some | 1 | |
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) | Is a | Microlissencephaly | true | Inferred relationship | Some | ||
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) | Associated morphology | Congenital smallness | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets