726079008: Hereditary hypercarotenemia and vitamin A deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Hereditary hypercarotenaemia and vitamin A deficiency
• \Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hereditary hypercarotenaemia and vitamin A deficiency
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Hereditary hypercarotenaemia and vitamin A deficiency
• \Congenital disease\Inborn error of metabolism\Hereditary hypercarotenaemia and vitamin A deficiency

Status: current, Primitive. 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	Initial character case insensitive	SNOMED CT core
3447963011	Hereditary hypercarotenemia and vitamin A deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3447964017	Hereditary hypercarotenaemia and vitamin A deficiency	en	Synonym	Active	Initial character case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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