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

Descriptions:

Id Description Lang Type Status Case? Module

4696316014 QRSL1-related combined oxidative phosphorylation defect en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4696417018 Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4696418011 Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4696317017 A rare mitochondrial disease with characteristics of prenatal or early infantile onset of severe cardiomyopathy, failure to thrive and global developmental delay, sensorineural hearing loss and severe lactic acidosis. Hepatic involvement and adrenal insufficiency, as well as encephalopathy and anomalies of deep grey matter structures on brain MRI have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4696318010 A rare mitochondrial disease with characteristics of prenatal or early infantile onset of severe cardiomyopathy, failure to thrive and global developmental delay, sensorineural hearing loss and severe lactic acidosis. Hepatic involvement and adrenal insufficiency, as well as encephalopathy and anomalies of deep gray matter structures on brain MRI have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5599511000052115 QRSL1-relaterad kombinerad brist på oxidativ fosforylering sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
QRSL1-related combined oxidative phosphorylation defect	Is a	Disorder of mitochondrial respiratory chain complexes	true	Inferred relationship	Some
QRSL1-related combined oxidative phosphorylation defect	Is a	Mitochondrial cytopathy (disorder)	true	Inferred relationship	Some
QRSL1-related combined oxidative phosphorylation defect	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
QRSL1-related combined oxidative phosphorylation defect	Is a	Hypertrophic mitochondrial cardiomyopathy (disorder)	true	Inferred relationship	Some
QRSL1-related combined oxidative phosphorylation defect	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
QRSL1-related combined oxidative phosphorylation defect	Due to	Mitochondrial cytopathy (disorder)	true	Inferred relationship	Some	3
QRSL1-related combined oxidative phosphorylation defect	Occurrence	Congenital	true	Inferred relationship	Some	2
QRSL1-related combined oxidative phosphorylation defect	Finding site	Myocardium structure	true	Inferred relationship	Some	1
QRSL1-related combined oxidative phosphorylation defect	Associated morphology	Hypertrophy	true	Inferred relationship	Some	1

Inbound Relationships

Characteristic

Refinability

This concept is not in any reference sets

Id	Description	Lang	Type	Status	Case?	Module
4696316014	QRSL1-related combined oxidative phosphorylation defect	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4696417018	Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4696418011	Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4696317017	A rare mitochondrial disease with characteristics of prenatal or early infantile onset of severe cardiomyopathy, failure to thrive and global developmental delay, sensorineural hearing loss and severe lactic acidosis. Hepatic involvement and adrenal insufficiency, as well as encephalopathy and anomalies of deep grey matter structures on brain MRI have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4696318010	A rare mitochondrial disease with characteristics of prenatal or early infantile onset of severe cardiomyopathy, failure to thrive and global developmental delay, sensorineural hearing loss and severe lactic acidosis. Hepatic involvement and adrenal insufficiency, as well as encephalopathy and anomalies of deep gray matter structures on brain MRI have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5599511000052115	QRSL1-relaterad kombinerad brist på oxidativ fosforylering	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)