Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Oct 2024. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
5393206011 | Isolated primary pigmented nodular adrenocortical disease (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5393207019 | Isolated primary pigmented nodular adrenocortical disease | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5393208012 | i-PPNAD - isolated primary pigmented nodular adrenocortical disease | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5393209016 | Isolated PPNAD (primary pigmented nodular adrenocortical disease) | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
5393210014 | A rare adrenocortical nodular disease characterized by increased to normal sized adrenal glands containing multiple small (less than 1 cm in diameter) cortical pigmented (lipofuscin) nodules, surrounded by internodular adrenocortical atrophy. It is typically associated with the development of a form of adrenal Cushing syndrome (CS). Rarely, it has been associated with adrenal macronodules. Whilst PRKAR1A variants are associated with CNC (Carney complex), the mutation c.709-7del6 is mostly associated with i-PPNAD. Other mutations associated with i-PPNAD include PRKACA (germline copy-number gains), PDE11A and PDE8B genes, although these are rare. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5393211013 | A rare adrenocortical nodular disease characterised by increased to normal sized adrenal glands containing multiple small (less than 1 cm in diameter) cortical pigmented (lipofuscin) nodules, surrounded by internodular adrenocortical atrophy. It is typically associated with the development of a form of adrenal Cushing syndrome (CS). Rarely, it has been associated with adrenal macronodules. Whilst PRKAR1A variants are associated with CNC (Carney complex), the mutation c.709-7del6 is mostly associated with i-PPNAD. Other mutations associated with i-PPNAD include PRKACA (germline copy-number gains), PDE11A and PDE8B genes, although these are rare. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Isolated primary pigmented nodular adrenocortical disease (disorder) | Is a | Micronodular adrenal hyperplasia | true | Inferred relationship | Some | ||
Isolated primary pigmented nodular adrenocortical disease (disorder) | Is a | Genetic disease | true | Inferred relationship | Some | ||
Isolated primary pigmented nodular adrenocortical disease (disorder) | Finding site | Adrenal cortex structure | true | Inferred relationship | Some | 1 | |
Isolated primary pigmented nodular adrenocortical disease (disorder) | Associated morphology | Micronodular hyperplasia (morphologic abnormality) | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)