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783057002: DNA replication helicase/nuclease 2-related mitochondrial deoxyribonucleic acid deletion syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3757264011 Mitochondrial DNA deletion syndrome with limb-girdle weakness en Synonym Active Only initial character case insensitive SNOMED CT core module
3757265012 Mitochondrial DNA deletion syndrome with progressive myopathy en Synonym Active Only initial character case insensitive SNOMED CT core module
3757266013 DNA2-related mitochondrial DNA deletion syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
3777262014 DNA replication helicase/nuclease 2-related mitochondrial deoxyribonucleic acid deletion syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
3777263016 DNA replication helicase/nuclease 2-related mitochondrial deoxyribonucleic acid deletion syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
DNA replication helicase/nuclease 2-related mitochondrial deoxyribonucleic acid deletion syndrome Is a Disorder of mitochondrial respiratory chain complexes true Inferred relationship Existential restriction modifier
DNA replication helicase/nuclease 2-related mitochondrial deoxyribonucleic acid deletion syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier
DNA replication helicase/nuclease 2-related mitochondrial deoxyribonucleic acid deletion syndrome Is a Mitochondrial myopathy true Inferred relationship Existential restriction modifier
DNA replication helicase/nuclease 2-related mitochondrial deoxyribonucleic acid deletion syndrome Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier 1
DNA replication helicase/nuclease 2-related mitochondrial deoxyribonucleic acid deletion syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier
DNA replication helicase/nuclease 2-related mitochondrial deoxyribonucleic acid deletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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