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773728004: déficit en transcortine (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
3726008014 Corticosteroid-binding globulin deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3726009018 Transcortin deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
771971000241110 déficit en transcortine (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
995011000172113 déficit en transcortine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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 Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Corticosteroid-binding globulin deficiency (disorder) localisation d'une constatation (attribut) glande suprarénale true Inferred relationship Some 1
Corticosteroid-binding globulin deficiency (disorder) est un(e) (attribut) Abnormality of cortisol-binding globulin true Inferred relationship Some
Corticosteroid-binding globulin deficiency (disorder) est un(e) (attribut) Autosomal hereditary disorder true Inferred relationship Some
Corticosteroid-binding globulin deficiency (disorder) est un(e) (attribut) Hereditary disorder by system false Inferred relationship Some
Corticosteroid-binding globulin deficiency (disorder) est un(e) (attribut) Hereditary disorder of endocrine system (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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