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1354861009: Lung disease, immunodeficiency, chromosome breakage syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jan 2025. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5424965017 Lung disease, immunodeficiency, chromosome breakage syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5424966016 Autosomal recessive deoxyribonucleic acid repair defect due to NSMCE3 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5424967013 LICS syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5424968015 Autosomal recessive deoxyribonucleic acid repair defect due to NSMCE3 mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5424969011 Lung disease, immunodeficiency, chromosome breakage syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5424970012 DNA repair defect due to NSMCE3 deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5424965017 Lung disease, immunodeficiency, chromosome breakage syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5424966016 Autosomal recessive deoxyribonucleic acid repair defect due to NSMCE3 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5424967013 LICS syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5424968015 Autosomal recessive deoxyribonucleic acid repair defect due to NSMCE3 mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5424969011 Lung disease, immunodeficiency, chromosome breakage syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5424970012 DNA repair defect due to NSMCE3 deficiency en Synonym (core metadata concept) 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
Lung disease, immunodeficiency, chromosome breakage syndrome Is a Interstitial lung disease true Inferred relationship Existential restriction modifier (core metadata concept)
Lung disease, immunodeficiency, chromosome breakage syndrome Is a Deficiency of DNA repair true Inferred relationship Existential restriction modifier (core metadata concept)
Lung disease, immunodeficiency, chromosome breakage syndrome Is a Connective tissue hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Lung disease, immunodeficiency, chromosome breakage syndrome Is a Hereditary disorder of immune system true Inferred relationship Existential restriction modifier (core metadata concept)
Lung disease, immunodeficiency, chromosome breakage syndrome Is a Chronic disease of immune function (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Lung disease, immunodeficiency, chromosome breakage syndrome Is a Chronic lung disease (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Lung disease, immunodeficiency, chromosome breakage syndrome Is a Combined immunodeficiency disease true Inferred relationship Existential restriction modifier (core metadata concept)
Lung disease, immunodeficiency, chromosome breakage syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Lung disease, immunodeficiency, chromosome breakage syndrome Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 1
Lung disease, immunodeficiency, chromosome breakage syndrome Interprets Evaluation procedure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Lung disease, immunodeficiency, chromosome breakage syndrome Finding site Structure of interstitial tissue of lung true Inferred relationship Existential restriction modifier (core metadata concept) 2
Lung disease, immunodeficiency, chromosome breakage syndrome Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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