65419005: Sitosterolemia with xanthomatosis (disorder)

SNOMED CT Concept\Clinical finding (finding)\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

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Sitosterolemia with xanthomatosis

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Familial disease with storage of sterols (other than cholesterol)\Sitosterolemia with xanthomatosis

\Degenerative disorder\Xanthomatosis\Sitosterolemia with xanthomatosis

\Familial disease\Familial disease with storage of sterols (other than cholesterol)\Sitosterolemia with xanthomatosis

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Familial disease with storage of sterols (other than cholesterol)\Sitosterolemia with xanthomatosis
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipoprotein storage and metabolism\Sitosterolemia\Sitosterolemia with xanthomatosis
\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

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

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

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	false	Inferred relationship	Some	1
Sitosterolemia with xanthomatosis	Is a	Hereditary disorder of the integument	false	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
Sitosterolemia with xanthomatosis	Associated morphology	Xanthomatous deposition	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets