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1231309005: myopathische vorm van mitochondriaal deoxyribonucleïnezuurdepletiesyndroom (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Jun 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5072179010 Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5072180013 Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
13985691000146111 myopathische vorm van mitochondriaal DNA-depletiesyndroom nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13985701000146111 myopathische vorm van mitochondriaal deoxyribonucleïnezuurdepletiesyndroom (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13985711000146113 myopathische vorm van mitochondriaal deoxyribonucleïnezuurdepletiesyndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13985721000146115 myopathische vorm van mitochondrieel DNA-depletiesyndroom nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
5072184016 A form of mitochondrial DNA depletion syndrome that displays a broad phenotypic spectrum but most often has characteristics of hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


1 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder) Is a Mitochondrial myopathy true Inferred relationship Some
Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder) Is a Depletion of mitochondrial DNA true Inferred relationship Some
Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder) Is a Disorder of pyrimidine metabolism true Inferred relationship Some
Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder) Occurrence Congenital true Inferred relationship Some 1
Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder) Finding site Skeletal muscle structure true Inferred relationship Some 1
Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder) Is a Congenital myopathy (disorder) true Inferred relationship Some
Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder) Is a Hereditary myopathy (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
TK2-related mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder) Is a True Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder) Inferred relationship Some

This concept is not in any reference sets

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