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237769009: Disorder of cortisol-cortisone shuttle (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
356332012 Disorder of cortisol-cortisone shuttle en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
626544017 Disorder of cortisol-cortisone shuttle (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2706991000005117 Forstyrrelse af kortisol-kortison-balance da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)


2 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Disorder of cortisol-cortisone shuttle Is a Disorder of adrenal gland true Inferred relationship Some
Disorder of cortisol-cortisone shuttle Is a Disorder of steroid metabolism (disorder) true Inferred relationship Some
Disorder of cortisol-cortisone shuttle Finding site Adrenal structure true Inferred relationship Some 1
Disorder of cortisol-cortisone shuttle Finding site Entire endocrine gonad (body structure) false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
A rare form of pseudohyperaldosteronism with characteristics of very early-onset and severe hypertension associated with low renin levels and hypoaldosteronism. Caused by homozygous or compound heterozygous loss-of-function mutations or deletions in the HSD11B2 gene (16q22). In all cases, these mutations lead to abolition or a marked decrease in the activity of 11-beta-hydroxysteroid dehydrogenase type 2 (11-beta-HSD2), an enzyme involved in the conversion of cortisol to cortisone. Transmission is autosomal recessive. Is a True Disorder of cortisol-cortisone shuttle Inferred relationship Some
Corticosteroid 11-reductase deficiency Is a True Disorder of cortisol-cortisone shuttle Inferred relationship Some

Reference Sets

Description inactivation indicator reference set

GB English

US English

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