718124006: fatale infantiele deficiëntie van cytochroom c-oxidase (aandoening)

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\Cytochrome-c oxidase deficiency\Fatal infantile cytochrome C oxidase deficiency (disorder)

\Disorder of foetus and/or newborn\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\Cytochrome-c oxidase deficiency\Fatal infantile cytochrome C oxidase deficiency (disorder)

\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\Cytochrome-c oxidase deficiency\Fatal infantile cytochrome C oxidase deficiency (disorder)
\Metabolic disease\Mitochondrial cytopathy (disorder)\Cytochrome-c oxidase deficiency\Fatal infantile cytochrome C oxidase deficiency (disorder)
\Metabolic disease\Enzymopathy\Deficiency in enzyme complexes of mitochondrial respiratory chain\Cytochrome-c oxidase deficiency\Fatal infantile cytochrome C oxidase deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3311235017 Fatal infantile cytochrome C oxidase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3311236016 Fatal infantile cytochrome C oxidase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

8643871000146117 fatale infantiele deficiëntie van cytochroom c-oxidase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8714501000146114 fatale infantiele cytochroom c-oxidasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8714511000146111 fatale infantiele deficiëntie van cytochroom c-oxidase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3311237013 A very rare mitochondrial disease with clinical characteristic of cardioencephalomyopathy resulting in death in infancy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Fatal infantile cytochrome C oxidase deficiency (disorder)	Is a	Cytochrome-c oxidase deficiency	true	Inferred relationship	Some
Fatal infantile cytochrome C oxidase deficiency (disorder)	Occurrence	Infancy	true	Inferred relationship	Some	1
Fatal infantile cytochrome C oxidase deficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set