Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3686455015 | PPP2R5D-related intellectual disability | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3686456019 | PPP2R5D (protein phosphatase 2 regulatory subunit b (b56) delta) related intellectual disability | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3686457011 | Protein phosphatase 2 regulatory subunit b (b56) delta-related intellectual disability | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3686458018 | Protein phosphatase 2 regulatory subunit b (b56) delta-related intellectual disability (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3686459014 | A neurological disorder with characteristics of moderate to severe developmental delay and intellectual disability. Additional manifestations may include hypotonia, delayed development of motor skills, delayed speech development, recurrent seizures, autism spectrum disorder, macrocephaly and unusual facial features including frontal bossing, hypertelorism and downslanting palpebral fissures. Caused by mutations in the PPP2R5D gene, which provides instructions for making B56-delta resulting in the production of an altered B56 protein. Inherited in an autosomal dominant pattern however most cases of this condition result from de novo gene mutation. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| PPP2R5D-related intellectual disability | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| PPP2R5D-related intellectual disability | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| PPP2R5D-related intellectual disability | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 2 | |
| PPP2R5D-related intellectual disability | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
| PPP2R5D-related intellectual disability | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 3 | |
| PPP2R5D-related intellectual disability | Has interpretation | Impaired | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR