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726079008: Hereditary hypercarotenemia and vitamin A deficiency (disorder)

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

\Genetic disease\Hereditary 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)

\Metabolic disease\Inborn error of metabolism\Hereditary hypercarotenemia and vitamin A deficiency (disorder)

\Congenital disease (disorder)\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

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

3998851000052112 hereditär hyperkarotenemi och A-vitaminbrist sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary hypercarotenemia and vitamin A deficiency (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Hereditary hypercarotenemia and vitamin A deficiency (disorder)	Is a	Inborn error of metabolism	true	Inferred relationship	Some
Hereditary hypercarotenemia and vitamin A deficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

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
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
3998851000052112	hereditär hyperkarotenemi och A-vitaminbrist	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)