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363732003: Addison's disease (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
485624014 Addison's disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
765190014 Addison's disease (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
2837781013 Addison disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2034461000005117 Addisons sygdom da Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Danish module (core metadata concept)


4 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Addison's disease Is a Adrenal cortical hypofunction false Inferred relationship Some
Addison's disease Finding site Adrenal cortex structure true Inferred relationship Some 1
Addison's disease Finding site Entire endocrine gonad (body structure) false Inferred relationship Some
Addison's disease Is a Adrenal cortical hypofunction (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Tuberculous Addison's disease Is a True Addison's disease Inferred relationship Some
Addison's disease with adrenoleucodystrophy Is a True Addison's disease Inferred relationship Some
Addison's disease due to autoimmunity Is a True Addison's disease Inferred relationship Some
A rare genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure. The first manifestation of the disease (usually candidiasis) occurs in childhood with other manifestations appearing progressively. The most common autoimmune endocrine involvement is hypoparathyroidism (79-96% of cases). Adrenal failure most often manifests with concurrent mineralocorticoid and glucocorticoid deficiency (78% of cases). The disease is caused by mutations of the AIRE gene (21q22.3) coding for the AIRE transcription factor, which is involved in immune tolerance mechanisms and contributes to the negative selection of autoreactive T lymphocytes in the thymus, lymph nodes and spleen. Transmission is autosomal recessive. Is a True Addison's disease Inferred relationship Some
Buccal pigmentation due to Addison's disease (disorder) Associated etiologic finding False Addison's disease Inferred relationship Some
Buccal pigmentation due to Addison's disease (disorder) Due to True Addison's disease Inferred relationship Some 3
Addison melanoderma Due to True Addison's disease Inferred relationship Some 2
Family history of Addison disease Associated finding True Addison's disease Inferred relationship Some 1

Reference Sets

GB English

US English

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