124350002: Deficiency of deoxyribonucleic acid-directed deoxyribonucleic acid polymerase (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase (disorder)\Deficiency of DNA-directed DNA polymerase

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

204107014 Deficiency of DNA nucleotidyltransferase (DNA-directed) en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

204108016 Deficiency of DNA-directed DNA polymerase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2970091019 Deficiency of deoxyribonucleic acid-directed deoxyribonucleic acid polymerase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2970691015 Deficiency of deoxyribonucleic acid-directed deoxyribonucleic acid polymerase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5726601000172114 déficit en DNA-directed DNA polymérase fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4268761000172110 deficiëntie van deoxyribonucleïnezuurafhankelijk deoxyribonucleïnezuurpolymerase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4268771000172118 deficiëntie van desoxyribonucleïnezuurafhankelijk desoxyribonucleïnezuurpolymerase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4268781000172115 deficiëntie van DNA-afhankelijk DNA-polymerase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4268791000172117 DNA-polymerasedeficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of DNA-directed DNA polymerase	Is a	Deficiency of transferase (disorder)	true	Inferred relationship	Some
Deficiency of DNA-directed DNA polymerase	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets