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773728004: Corticosteroid-binding globulin deficiency (disorder)


Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3726007016 Corticosteroid-binding globulin deficiency (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3726008014 Corticosteroid-binding globulin deficiency en Synonym Active Case insensitive SNOMED CT core
3726009018 Transcortin deficiency en Synonym Active Case insensitive SNOMED CT core
3726010011 A rare genetic adrenal disease with characteristics of diminished corticosteroid-binding capacity associated with normal or low plasma corticosteroid-binding globulin concentration and reduced total plasma cortisol levels. Patients typically present chronic pain, fatigue and hypo/hypertension. Can be caused by heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Corticosteroid-binding globulin deficiency Finding site Adrenal structure true Inferred relationship Some 1
Corticosteroid-binding globulin deficiency Is a Abnormality of cortisol-binding globulin true Inferred relationship Some
Corticosteroid-binding globulin deficiency Is a Autosomal hereditary disorder true Inferred relationship Some
Corticosteroid-binding globulin deficiency Is a Hereditary disorder by system false Inferred relationship Some
Corticosteroid-binding globulin deficiency Is a Hereditary disorder of endocrine system true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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