726079008: Hereditary hypercarotenemia and vitamin A deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Hereditary hypercarotenemia and vitamin A deficiency (disorder)
• \Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hereditary hypercarotenemia and vitamin A deficiency (disorder)
• \Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Hereditary hypercarotenemia and vitamin A deficiency (disorder)
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Hereditary hypercarotenemia and vitamin A 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
3447962018	Hereditary hypercarotenemia and vitamin A deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3447963011	Hereditary hypercarotenemia and vitamin A deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3447964017	Hereditary hypercarotenaemia and vitamin A deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5403525010	Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403526011	Hereditary hypercarotenaemia and vitamin A deficiency is an extremely rare metabolic disorder characterised clinically by skin discolouration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3447962018	Hereditary hypercarotenemia and vitamin A deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3447963011	Hereditary hypercarotenemia and vitamin A deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3447964017	Hereditary hypercarotenaemia and vitamin A deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3447965016	An extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date. There is evidence that the disease is caused by heterozygous mutation in the BCMO1 gene on chromosome 16q23.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3447966015	An extremely rare metabolic disorder characterised clinically by skin discolouration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date. There is evidence that the disease is caused by heterozygous mutation in the BCMO1 gene on chromosome 16q23.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403525010	Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403526011	Hereditary hypercarotenaemia and vitamin A deficiency is an extremely rare metabolic disorder characterised clinically by skin discolouration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3389151001000114	Hyperkarotinämie, hereditäre, mit Vitamin A-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
959611000172113	déficit en vitamine A et hypercarotinémie héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
959611000172113	déficit en vitamine A et hypercarotinémie héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3389151001000114	Hyperkarotinämie, hereditäre, mit Vitamin A-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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