Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3701882017 | Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3701883010 | Microcephalus, brain defect, spasticity, hypernatraemia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3701884016 | Franek Bocker Kahlen syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3701885015 | Microcephalus, brain defect, spasticity, hypernatremia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3701880013 | A rare congenital genetic syndrome with a central nervous system malformation as a major feature. The disorder has characteristics of microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. Only one familial case with three affected siblings is reported and there have been no further descriptions in the literature since 1986. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3701881012 | A rare congenital genetic syndrome with a central nervous system malformation as a major feature. The disorder has characteristics of microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatraemia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. Only one familial case with three affected siblings is reported and there have been no further descriptions in the literature since 1986. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder) | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 1 | |
| Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder) | Is a | Disorder of skeletal muscle | true | Inferred relationship | Some | ||
| Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder) | Finding site | Brain structure | false | Inferred relationship | Some | 1 | |
| Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder) | Is a | Spasticity | true | Inferred relationship | Some | ||
| Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder) | Is a | Congenital anomaly of brain | false | Inferred relationship | Some | ||
| Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder) | Is a | Microcephalus | false | Inferred relationship | Some | ||
| Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder) | Finding site | Skeletal muscle structure | false | Inferred relationship | Some | 2 | |
| Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder) | Interprets | Muscle tone | true | Inferred relationship | Some | 3 | |
| Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder) | Has interpretation | Increased | true | Inferred relationship | Some | 3 | |
| Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder) | Is a | Hypernatremia | true | Inferred relationship | Some | ||
| Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 4 | |
| Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder) | Finding site | Brain structure | true | Inferred relationship | Some | 2 | |
| Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 5 | |
| Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder) | Interprets | Birth head circumference | true | Inferred relationship | Some | 4 | |
| Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder) | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 2 | |
| Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder) | Finding site | Head structure | true | Inferred relationship | Some | 1 | |
| Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder) | Is a | Congenital hypoplasia of brain | true | Inferred relationship | Some | ||
| Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder) | Is a | Congenital microcephaly (disorder) | true | Inferred relationship | Some | ||
| Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder) | Associated morphology | Abnormal smallness (morphologic abnormality) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR