Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Dec 2022. Module: SNOMED CT core module
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
5159126016 | PADDAS syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
5159127013 | SCA47 - spinocerebellar ataxia type 47 | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
5159128015 | Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
5159129011 | Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive | SNOMED CT core module |
5159130018 | PUM1-associated developmental disability, ataxia, seizure syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome | Is a | Intellectual disability | true | Inferred relationship | Existential restriction modifier | ||
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome | Is a | Spinocerebellar ataxia | true | Inferred relationship | Existential restriction modifier | ||
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome | Is a | Developmental delay | true | Inferred relationship | Existential restriction modifier | ||
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 5 | |
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome | Interprets | Intellectual ability | true | Inferred relationship | Existential restriction modifier | 3 | |
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 3 | |
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome | Interprets | Adaptation behavior | true | Inferred relationship | Existential restriction modifier | 4 | |
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 4 | |
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome | Finding site | Cerebellar structure | true | Inferred relationship | Existential restriction modifier | 1 | |
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome | Associated morphology | Degenerative abnormality | true | Inferred relationship | Existential restriction modifier | 1 | |
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome | Finding site | Spinal cord structure | true | Inferred relationship | Existential restriction modifier | 2 | |
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome | Associated morphology | Degenerative abnormality | true | Inferred relationship | Existential restriction modifier | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets