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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 (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3706391012 COXPD10 - combined oxidative phosphorylation defect type 10 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3706392017 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3706393010 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimisation 1 deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
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 (core metadata concept) SNOMED CT core
3706395015 Combined oxidative phosphorylation defect type 10 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3706396019 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimization 1 deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3706397011 A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency. The disease has characteristics of lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia. Caused by homozygous or compound heterozygous mutation in the MTO1 gene on chromosome 6q13. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3706391012 COXPD10 - combined oxidative phosphorylation defect type 10 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3706392017 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3706393010 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimisation 1 deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
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 (core metadata concept) SNOMED CT core
3706395015 Combined oxidative phosphorylation defect type 10 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3706396019 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimization 1 deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3706397011 A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency. The disease has characteristics of lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia. Caused by homozygous or compound heterozygous mutation in the MTO1 gene on chromosome 6q13. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3448551001000111 Kardiomyopathie, hypertrophe mitochondriale, mit Laktatazidose durch MTO1-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3448551001000111 Kardiomyopathie, hypertrophe mitochondriale, mit Laktatazidose durch MTO1-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency Due to Mitochondrial cytopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency Associated morphology Hypertrophy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency Finding site Myocardium structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency Is a Hypertrophic mitochondrial cardiomyopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency Is a Congenital cardiovascular disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency Is a Mitochondrial cytopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency Is a Deficiency in enzyme complexes of mitochondrial respiratory chain (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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