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 |
| 3755618014 | Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 3755619018 | SCAR20 - autosomal recessive spinocerebellar ataxia type 20 | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 3755620012 | Autosomal recessive spinocerebellar ataxia type 20 | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 3755621011 | Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 1 | |
| Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
| Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome | Is a | Congenital cerebellar hypoplasia | true | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome | Is a | Hereditary ataxia | true | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome | Is a | Intellectual disability | true | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 2 | |
| Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 2 | |
| Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome | Is a | Global developmental delay | true | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome | Is a | Early onset cerebellar ataxia | true | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome | Finding site | Face structure | true | Inferred relationship | Existential restriction modifier | 1 | |
| Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Existential restriction modifier | 1 | |
| Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome | Finding site | Cerebellar structure | true | Inferred relationship | Existential restriction modifier | 2 | |
| Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome | Associated morphology | Hypoplasia | true | Inferred relationship | Existential restriction modifier | 2 | |
| Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome | Interprets | Intellectual ability | true | Inferred relationship | Existential restriction modifier | 3 | |
| Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 3 | |
| Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome | Interprets | Adaptation behavior | true | Inferred relationship | Existential restriction modifier | 4 | |
| Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR