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716871006: Severe combined immunodeficiency due to deoxyribonucleic acid dependent protein kinase catalytic subunit deficiency (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3307856013 Severe combined immunodeficiency due to deoxyribonucleic acid dependent protein kinase catalytic subunit deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3307857016 Severe combined immunodeficiency due to deoxyribonucleic acid dependent protein kinase catalytic subunit deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3307858014 Severe combined immunodeficiency due to DNA-PKcs deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3307859018 An extremely rare type of severe combined immunodeficiency characterized by the classical signs of severe combined immunodeficiency (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes and cell sensitivity to ionizing radiation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3307860011 An extremely rare type of severe combined immunodeficiency characterised by the classical signs of severe combined immunodeficiency (severe and recurrent infections, diarrhoea, failure to thrive), absence of T and B lymphocytes and cell sensitivity to ionising radiation. 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 deoxyribonucleic acid dependent protein kinase catalytic subunit deficiency (disorder) Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 3
Severe combined immunodeficiency due to deoxyribonucleic acid dependent protein kinase catalytic subunit deficiency (disorder) est un(e) (attribut) Severe combined immunodeficiency disease true Inferred relationship Some
Severe combined immunodeficiency due to deoxyribonucleic acid dependent protein kinase catalytic subunit deficiency (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Severe combined immunodeficiency due to deoxyribonucleic acid dependent protein kinase catalytic subunit deficiency (disorder) localisation d'une constatation (attribut) structure d'un système corporel true Inferred relationship Some 1
Severe combined immunodeficiency due to deoxyribonucleic acid dependent protein kinase catalytic subunit deficiency (disorder) est défini par la manifestation de (attribut) Immune system finding false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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