65419005: Sitosterolemia with xanthomatosis (disorder)

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

\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Metabolic and nutritional disorders affecting skin\Xanthomatosis\Sitosterolemia with xanthomatosis

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Metabolic and nutritional disorders affecting skin\Xanthomatosis\Sitosterolemia with xanthomatosis
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Metabolic and nutritional disorders affecting skin\Xanthomatosis\Sitosterolemia with xanthomatosis

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Sitosterolemia with xanthomatosis
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Metabolic and nutritional disorders affecting skin\Xanthomatosis\Sitosterolemia with xanthomatosis
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Metabolic and nutritional disorders affecting skin\Xanthomatosis\Sitosterolemia with xanthomatosis

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Familial disease with storage of sterols (other than cholesterol)\Sitosterolemia with xanthomatosis
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Sitosterolemia with xanthomatosis
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Sitosterolemia with xanthomatosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Sitosterolemia with xanthomatosis
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Sitosterolemia with xanthomatosis
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Metabolic and nutritional disorders affecting skin\Xanthomatosis\Sitosterolemia with xanthomatosis
\Disease\Familial disease\Familial disease with storage of sterols (other than cholesterol)\Sitosterolemia with xanthomatosis
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Familial disease with storage of sterols (other than cholesterol)\Sitosterolemia with xanthomatosis
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipoprotein storage and metabolism\Sitosterolemia\Sitosterolemia with xanthomatosis
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipoprotein storage and metabolism\Familial disease with storage of sterols (other than cholesterol)\Sitosterolemia with xanthomatosis
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Xanthomatosis\Sitosterolemia with xanthomatosis
\Disease\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Familial disease with storage of sterols (other than cholesterol)\Sitosterolemia with xanthomatosis
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Metabolic and nutritional disorders affecting skin\Xanthomatosis\Sitosterolemia with xanthomatosis

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Sitosterolemia with xanthomatosis	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Sitosterolemia with xanthomatosis	Is a	Xanthomatosis	true	Inferred relationship	Some
Sitosterolemia with xanthomatosis	Is a	Familial disease with storage of sterols (other than cholesterol)	true	Inferred relationship	Some
Sitosterolemia with xanthomatosis	Occurrence	Congenital	true	Inferred relationship	Some	2
Sitosterolemia with xanthomatosis	Finding site	Skin structure	true	Inferred relationship	Some	1
Sitosterolemia with xanthomatosis	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Sitosterolemia with xanthomatosis	Is a	Congenital anomaly of integument	false	Inferred relationship	Some
Sitosterolemia with xanthomatosis	Is a	Sitosterolemia	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
108692016	Sitosterolemia with xanthomatosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
108693014	beta-Sitosterolemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
108694015	Sitosterolemic xanthomatosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
500112014	Sitosterolaemic xanthomatosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
500113016	Beta-sitosterolaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
500114010	Sitosterolaemia with xanthomatosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
804920018	Sitosterolemia with xanthomatosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core