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771509001: Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial deoxyribonucleic acid mutation (disorder)

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3706548015 Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial deoxyribonucleic acid mutation (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3706549011 Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial deoxyribonucleic acid mutation en Synonym Active Case insensitive SNOMED CT core
3706550011 Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation en Synonym Active Initial character case insensitive SNOMED CT core
3706551010 A mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure. en Definition Active Case sensitive SNOMED CT core
3706552015 A mitochondrial oxidative phosphorylation disorder characterised by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalised hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure. en Definition Active Case sensitive SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation Finding site Myocardium structure true Inferred relationship Some 1
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation Due to Mitochondrial cytopathy true Inferred relationship Some 4
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation Is a Renal tubular acidosis true Inferred relationship Some
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation Is a Hypertrophic mitochondrial cardiomyopathy true Inferred relationship Some
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation Finding site Skeletal muscle structure true Inferred relationship Some 2
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation Associated morphology Hypertrophy true Inferred relationship Some 1
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation Is a Mitochondrial myopathy true Inferred relationship Some
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation Finding site Kidney structure true Inferred relationship Some 3
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation Is a Urinary complication true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

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