Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2019. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3755475011 | Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN (RUN and cysteine rich domain containing beclin 1 interacting protein) deficiency | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| 3755476012 | Autosomal recessive spinocerebellar ataxia type 15 | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 3755477015 | SCAR15 - autosomal recessive spinocerebellar ataxia type 15 | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 3755479017 | Salih ataxia | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 3755482010 | Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUN and cysteine rich domain containing beclin 1 interacting protein deficiency (disorder) | en | Fully specified name | Active | Only initial character case insensitive | SNOMED CT core module |
| 3755483017 | Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUN and cysteine rich domain containing beclin 1 interacting protein deficiency | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| 3755484011 | Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUBCN deficiency | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUN and cysteine rich domain containing beclin 1 interacting protein deficiency | Associated morphology | Degeneration | false | Inferred relationship | Existential restriction modifier | 1 | |
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUN and cysteine rich domain containing beclin 1 interacting protein deficiency | Associated morphology | Degeneration | false | Inferred relationship | Existential restriction modifier | 2 | |
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUN and cysteine rich domain containing beclin 1 interacting protein deficiency | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUN and cysteine rich domain containing beclin 1 interacting protein deficiency | Is a | Spinocerebellar ataxia | true | Inferred relationship | Existential restriction modifier | ||
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUN and cysteine rich domain containing beclin 1 interacting protein deficiency | Finding site | Spinal cord structure | true | Inferred relationship | Existential restriction modifier | 2 | |
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUN and cysteine rich domain containing beclin 1 interacting protein deficiency | Finding site | Cerebellar structure | true | Inferred relationship | Existential restriction modifier | 1 | |
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUN and cysteine rich domain containing beclin 1 interacting protein deficiency | Associated morphology | Degenerative abnormality | true | Inferred relationship | Existential restriction modifier | 2 | |
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUN and cysteine rich domain containing beclin 1 interacting protein deficiency | Associated morphology | Degenerative abnormality | true | Inferred relationship | Existential restriction modifier | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR