Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3498607012 | Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3498608019 | Epilepsy, microcephaly, skeletal dysplasia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3498609010 | Battaglia Neri syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 6816231000146116 | syndroom van epilepsie, microcefalie en skeletdysplasie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6816241000146112 | syndroom van epilepsie, microcefalie en skeletdysplasie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6939261000146118 | syndroom van Battaglia-Neri | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3499937011 | Syndrome with the association of moderate to severe intellectual deficit, microcephaly, epilepsy, coarse face, hirsutism and skeletal abnormalities (scoliosis and retarded bone development). It has been described only once, in two siblings (one male and one female). This syndrome is likely to be an autosomal recessive condition and thus parents should be informed of a 25% risk of recurrence for other children. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Is a | microcefalie | false | Inferred relationship | Some | ||
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Is a | Congenital anomaly of brain | false | Inferred relationship | Some | ||
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Is a | Epilepsy | true | Inferred relationship | Some | ||
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Is a | mentale retardatie | false | Inferred relationship | Some | ||
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Is a | Skeletal dysplasia | true | Inferred relationship | Some | ||
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Finding site | Cerebrum | true | Inferred relationship | Some | 4 | |
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Has definitional manifestation | Seizure | false | Inferred relationship | Some | ||
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Associated morphology | gebrekkige ontwikkeling (afwijkende morfologie) | false | Inferred relationship | Some | 6 | |
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Finding site | Face structure | false | Inferred relationship | Some | 6 | |
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Associated morphology | congenitale kleinheid | false | Inferred relationship | Some | 5 | |
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Finding site | Brain structure | false | Inferred relationship | Some | 5 | |
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Associated morphology | congenitale dysplasie (afwijkende morfologie) | false | Inferred relationship | Some | 7 | |
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 7 | |
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 2 | |
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Associated morphology | congenitale dysplasie (afwijkende morfologie) | false | Inferred relationship | Some | 2 | |
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Associated morphology | congenitale kleinheid | false | Inferred relationship | Some | 3 | |
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Finding site | Brain structure | false | Inferred relationship | Some | 3 | |
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 2 | |
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Is a | Congenital anomaly of skeletal bone | true | Inferred relationship | Some | ||
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Finding site | Head structure | true | Inferred relationship | Some | 3 | |
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 5 | |
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Interprets | Birth head circumference | true | Inferred relationship | Some | 5 | |
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Is a | Congenital microcephaly (disorder) | true | Inferred relationship | Some | ||
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 6 | |
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 6 | |
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 7 | |
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 7 | |
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Associated morphology | Abnormal smallness (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) | Is a | Congenital neurological disorder (disorder) | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR