724575009: Coenzyme Q10 deficiency (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Coenzyme Q10 deficiency (disorder)

\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Coenzyme Q10 deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3435711013 Coenzyme Q10 deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3435712018 Coenzyme Q10 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

955181000172114 déficit en CoQ10 (coenzyme Q10) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

979791000172113 déficit en coenzyme Q10 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

915521000172113 co-enzym Q10-deficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

1018991000172119 coQ10-deficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Coenzyme Q10 deficiency (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Coenzyme Q10 deficiency (disorder)	Is a	Specific enzyme deficiency	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome	Due to	False	Coenzyme Q10 deficiency (disorder)	Inferred relationship	Some	4
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Due to	True	Coenzyme Q10 deficiency (disorder)	Inferred relationship	Some	5
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome	Is a	True	Coenzyme Q10 deficiency (disorder)	Inferred relationship	Some
Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome (disorder)	Is a	True	Coenzyme Q10 deficiency (disorder)	Inferred relationship	Some

This concept is not in any reference sets