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783617001: ernstige gecombineerde immunodeficiëntie door deficiëntie van 'lymphocyte-specific protein-tyrosine kinase' (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3759517017 Severe combined immunodeficiency due to lymphocyte-specific protein-tyrosine kinase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3759518010 Severe combined immunodeficiency due to LCK (lymphocyte-specific protein-tyrosine kinase) deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3759519019 Severe combined immunodeficiency due to lymphocyte-specific protein-tyrosine kinase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3759520013 Severe combined immunodeficiency due to LCK deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
8794961000146117 ernstige gecombineerde immunodeficiëntie door deficiëntie van 'lymphocyte-specific protein-tyrosine kinase' (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8794971000146111 ernstige gecombineerde immunodeficiëntie door deficiëntie van 'lymphocyte-specific protein-tyrosine kinase' nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
9066491000146113 ernstige gecombineerde immunodeficiëntie door LCK-deficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3759521012 A rare combined T- and B-cell immunodeficiency with characteristics of failure to thrive, severe diarrhoea, opportunistic infections and abnormal T-cell differentiation and function due to LCK deficiency, leading to an important risk factor for inflammation and autoimmunity. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3759522017 A rare combined T- and B-cell immunodeficiency with characteristics of failure to thrive, severe diarrhea, opportunistic infections and abnormal T-cell differentiation and function due to LCK deficiency, leading to an important risk factor for inflammation and autoimmunity. 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
Severe combined immunodeficiency due to lymphocyte-specific protein-tyrosine kinase deficiency (disorder) Is a Severe combined immunodeficiency with low T- and B-cell numbers true Inferred relationship Some
Severe combined immunodeficiency due to lymphocyte-specific protein-tyrosine kinase deficiency (disorder) Is a Autosomal recessive severe combined immunodeficiency disease (disorder) true Inferred relationship Some
Severe combined immunodeficiency due to lymphocyte-specific protein-tyrosine kinase deficiency (disorder) Finding site Structure of immune system (body structure) true Inferred relationship Some 1
Severe combined immunodeficiency due to lymphocyte-specific protein-tyrosine kinase deficiency (disorder) Occurrence Congenital true Inferred relationship Some 1
Severe combined immunodeficiency due to lymphocyte-specific protein-tyrosine kinase 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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