724575009: deficiëntie van co-enzym Q10 (aandoening)

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

5914031000146114 co-enzym Q10-deficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6102441000146117 deficiëntie van co-enzym Q10 nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8712801000146116 deficiëntie van co-enzym Q10 (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained 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
Coenzyme Q10 deficiency (disorder)	Is a	Hereditary metabolic disease	false	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