124186006: Deficiency of NAPH cytochrome-c>2< reductase (disorder)

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

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Deficiency in enzyme complexes of mitochondrial respiratory chain\Deficiency of NAPH cytochrome-c>2< reductase

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Deficiency in enzyme complexes of mitochondrial respiratory chain\Deficiency of NAPH cytochrome-c>2< reductase
\Metabolic disease\Enzymopathy\Deficiency in enzyme complexes of mitochondrial respiratory chain\Deficiency of NAPH cytochrome-c>2< reductase
\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of NAPH cytochrome-c>2< reductase

\Congenital disease (disorder)\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Deficiency in enzyme complexes of mitochondrial respiratory chain\Deficiency of NAPH cytochrome-c>2< reductase

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

203688012 Deficiency of NAPH cytochrome-c>2< reductase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

727685012 Deficiency of NAPH cytochrome-c>2< reductase (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5643071000172111 déficit en NAPH cytochrome-c>2< reductase fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4773561000172113 NAPH-cytochroom c>2<reductasedeficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

4773571000172116 deficiëntie van NAPH-cytochroom c2-reductase 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
Deficiency of NAPH cytochrome-c>2< reductase	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of NAPH cytochrome-c>2< reductase	Is a	Deficiency in enzyme complexes of mitochondrial respiratory chain	true	Inferred relationship	Some
Deficiency of NAPH cytochrome-c>2< reductase	Finding site	Body system structure	false	Inferred relationship	Some
Deficiency of NAPH cytochrome-c>2< reductase	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

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Active

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Characteristic

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This concept is not in any reference sets