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771478008: Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimization 1 deficiency (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3706391012 COXPD10 - combined oxidative phosphorylation defect type 10 en Synonym Active Entire term case sensitive SNOMED CT core module
3706392017 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module
3706393010 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimisation 1 deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
3706394016 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimization 1 deficiency (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3706395015 Combined oxidative phosphorylation defect type 10 en Synonym Active Entire term case insensitive SNOMED CT core module
3706396019 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimization 1 deficiency en Synonym Active Entire term case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimization 1 deficiency Due to Mitochondrial cytopathy true Inferred relationship Existential restriction modifier 2
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimization 1 deficiency Associated morphology Hypertrophy true Inferred relationship Existential restriction modifier 1
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimization 1 deficiency Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimization 1 deficiency Finding site Myocardium structure true Inferred relationship Existential restriction modifier 1
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimization 1 deficiency Is a Hypertrophic mitochondrial cardiomyopathy true Inferred relationship Existential restriction modifier
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimization 1 deficiency Is a Congenital cardiovascular disorder true Inferred relationship Existential restriction modifier
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimization 1 deficiency Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimization 1 deficiency Is a Mitochondrial cytopathy true Inferred relationship Existential restriction modifier
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimization 1 deficiency Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimization 1 deficiency Is a Deficiency in enzyme complexes of mitochondrial respiratory chain true Inferred relationship Existential restriction modifier

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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