28965003: Deficiency of deoxyribonucleic acid repair (finding)

SNOMED CT Concept\Clinical finding (finding)\Procedure related finding\Evaluation finding\Finding related to molecular conformation\Molecular conformation\DNA repair\Deficiency of DNA repair

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

48495011 Deficiency of DNA repair en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2970175019 Deficiency of deoxyribonucleic acid repair en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2970646012 Deficiency of deoxyribonucleic acid repair (finding) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

48495011 Deficiency of DNA repair en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

759704013 Deficiency of DNA repair (finding) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2970175019 Deficiency of deoxyribonucleic acid repair en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2970175019 Deficiency of deoxyribonucleic acid repair en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2970646012 Deficiency of deoxyribonucleic acid repair (finding) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2970646012 Deficiency of deoxyribonucleic acid repair (finding) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5899751000241112 déficit en réparation de l'acide désoxyribonucléique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5899761000241110 déficit en réparation de l'ADN (acide désoxyribonucléique) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5899751000241112 déficit en réparation de l'acide désoxyribonucléique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5899761000241110 déficit en réparation de l'ADN (acide désoxyribonucléique) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of DNA repair	Is a	DNA repair	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of DNA repair	Interprets	Laboratory test	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of DNA repair	Finding method	Procedure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of DNA repair	Interprets	Evaluation procedure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Deficiency of homologous recombination deoxyribonucleic acid repair (finding)	Is a	True	Deficiency of DNA repair	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive deoxyribonucleic acid repair defect due to DNA polymerase epsilon 2, accessory subunit deficiency (disorder)	Is a	True	Deficiency of DNA repair	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive deoxyribonucleic acid repair defect due to DNA ligase 1 deficiency (disorder)	Is a	True	Deficiency of DNA repair	Inferred relationship	Existential restriction modifier (core metadata concept)
Lung disease, immunodeficiency, chromosome breakage syndrome	Is a	True	Deficiency of DNA repair	Inferred relationship	Existential restriction modifier (core metadata concept)

Reference Sets