238071004: Dihydroxycholestanoic acidemia and trihydroxycholestanoic acidemia (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function (disorder)\Dihydroxycholestanoic acidaemia and trihydroxycholestanoic acidaemia
• \Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function (disorder)\Dihydroxycholestanoic acidaemia and trihydroxycholestanoic acidaemia
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function (disorder)\Dihydroxycholestanoic acidaemia and trihydroxycholestanoic acidaemia

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
356856017	Dihydroxycholestanoic acidemia and trihydroxycholestanoic acidemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
356857014	Trihydroxycholestanoyl-CoA oxidase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
356858016	Dihydroxycholestanoic acidaemia and trihydroxycholestanoic acidaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
626903011	Dihydroxycholestanoic acidemia and trihydroxycholestanoic acidemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
356856017	Dihydroxycholestanoic acidemia and trihydroxycholestanoic acidemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
356856017	Dihydroxycholestanoic acidemia and trihydroxycholestanoic acidemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
356857014	Trihydroxycholestanoyl-CoA oxidase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
356858016	Dihydroxycholestanoic acidaemia and trihydroxycholestanoic acidaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
356858016	Dihydroxycholestanoic acidaemia and trihydroxycholestanoic acidaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
626903011	Dihydroxycholestanoic acidemia and trihydroxycholestanoic acidemia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
626903011	Dihydroxycholestanoic acidemia and trihydroxycholestanoic acidemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6072081000241117	acidémie dihydroxycholestanoïque et trihydroxycholestanoïque	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6072091000241115	déficit en trihydroxycholestanoyl-CoA oxydase	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6072081000241117	acidémie dihydroxycholestanoïque et trihydroxycholestanoïque	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6072091000241115	déficit en trihydroxycholestanoyl-CoA oxydase	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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