1354649003: Autosomal recessive deoxyribonucleic acid repair defect due to DNA ligase 1 deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Procedure related finding\Evaluation finding\Finding related to molecular conformation\Molecular conformation\DNA repair\Deficiency of DNA repair\Autosomal recessive deoxyribonucleic acid repair defect due to DNA ligase 1 deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive deoxyribonucleic acid repair defect due to DNA ligase 1 deficiency (disorder)
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Autosomal recessive deoxyribonucleic acid repair defect due to DNA ligase 1 deficiency (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
5423641014	Autosomal recessive deoxyribonucleic acid repair defect due to DNA ligase 1 deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5423642019	Autosomal recessive deoxyribonucleic acid repair defect due to DNA ligase 1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5423643012	Autosomal recessive DNA repair defect due to ligase 1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5423644018	Autosomal recessive DNA repair defect due to LIG1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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