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1348307004: Isolated primary pigmented nodular adrenocortical disease (disorder)


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


0 descendants.

Expanded Value Set


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)

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