FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.21  |  FHIR Version n/a  User: [n/a]

1197430005: Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 28-Feb 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
4696316014 QRSL1-related combined oxidative phosphorylation defect en Synonym Active Entire term case sensitive SNOMED CT core module
4696417018 Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
4696418011 Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect 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
Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect Is a Disorder of mitochondrial respiratory chain complexes true Inferred relationship Existential restriction modifier
Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect Is a Mitochondrial cytopathy true Inferred relationship Existential restriction modifier
Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier
Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect Is a Hypertrophic mitochondrial cardiomyopathy true Inferred relationship Existential restriction modifier
Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect Due to Mitochondrial cytopathy true Inferred relationship Existential restriction modifier 3
Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect Finding site Myocardium structure true Inferred relationship Existential restriction modifier 1
Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect Associated morphology Hypertrophy true Inferred relationship Existential restriction modifier 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start