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1197415001: vatbaarheid voor infectie door deficiëntie van tyrosinekinase 2 (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4696251016 Autosomal recessive hyper-IgE (immunoglobulin E) syndrome due to TYK2 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4696252011 Susceptibility to infection due to tyrosine kinase 2 deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4696253018 Susceptibility to infection due to TYK2 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4696254012 Susceptibility to infection due to tyrosine kinase 2 deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
13607301000146119 gevoeligheid voor infectie door TYK2-deficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13607311000146117 vatbaarheid voor infectie door deficiëntie van tyrosinekinase 2 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13607321000146110 autosomaal recessief hyperimmunoglobuline-E-syndroom door TYK2-deficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13607331000146112 vatbaarheid voor infectie door deficiëntie van tyrosinekinase 2 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
4696255013 A rare primary immunodeficiency with characteristics of increased susceptibility to intracellular bacterial and viral infection, with or without increased serum immunoglobulin E. Clinical manifestations are highly variable, depending on the infection type and location, and can include recurrent otitis, sinusitis, pulmonary and cutaneous infections, meningitis and internal abscesses. 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
Susceptibility to infection due to tyrosine kinase 2 deficiency (disorder) Is a Mendelian susceptibility to mycobacterial disease true Inferred relationship Some
Susceptibility to infection due to tyrosine kinase 2 deficiency (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Susceptibility to infection due to tyrosine kinase 2 deficiency (disorder) Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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