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719274008: Primary pigmented nodular adrenocortical disease (disorder)

    Status: retired, 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
    3315785016 Primary pigmented nodular adrenocortical disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3315796012 Primary pigmented nodular adrenocortical disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    3315797015 Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone independent Cushing syndrome. The disease has characteristics of small to normal sized adrenal glands containing multiple small cortical pigmented nodules. A substantial proportion of patients present during early childhood (2-3 years). More than 90% of reported cases of PPNAD occur as one of the manifestations of Carney complex. The condition is inherited in an autosomal dominant manner and can be associated with mutations in the PRKAR1A, PDE11A and PDE8B genes. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Primary pigmented nodular adrenocortical disease Is a Autosomal dominant hereditary disorder false Inferred relationship Some
    Primary pigmented nodular adrenocortical disease Is a Adrenocortical hyperplasia false Inferred relationship Some
    Primary pigmented nodular adrenocortical disease Is a Hereditary disorder of endocrine system (disorder) false Inferred relationship Some
    Primary pigmented nodular adrenocortical disease Associated morphology Hyperplasia false Inferred relationship Some 1
    Primary pigmented nodular adrenocortical disease Finding site Adrenal cortex structure false Inferred relationship Some 1
    Primary pigmented nodular adrenocortical disease Associated morphology Hyperplasia false Inferred relationship Some 2
    Primary pigmented nodular adrenocortical disease Occurrence Congenital false Inferred relationship Some 2
    Primary pigmented nodular adrenocortical disease Finding site Adrenal cortex structure false Inferred relationship Some 2
    Primary pigmented nodular adrenocortical disease Is a Micronodular adrenal hyperplasia false Inferred relationship Some
    Primary pigmented nodular adrenocortical disease Associated morphology Micronodular hyperplasia (morphologic abnormality) false Inferred relationship Some 1
    Inbound Relationships Type Active Source Characteristic Refinability Group

    Reference Sets

    POSSIBLY REPLACED BY association reference set (foundation metadata concept)

    Concept inactivation indicator reference set

    GB English

    US English

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