43465001: Inborn error of lipoprotein metabolism (disorder)

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

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inborn error of lipoprotein metabolism

\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Inborn error of lipoprotein metabolism

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inborn error of lipoprotein metabolism
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Inborn error of lipoprotein metabolism

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

72499019 Inborn error of lipoprotein metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

780480016 Inborn error of lipoprotein metabolism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4531641000241119 erreur innée du métabolisme des lipoprotéines fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Inborn error of lipoprotein metabolism	Is a	Disorder of lipoprotein AND/OR lipid metabolism	true	Inferred relationship	Some
Inborn error of lipoprotein metabolism	Finding site	Body system structure	false	Inferred relationship	Some
Inborn error of lipoprotein metabolism	Occurrence	Congenital	true	Inferred relationship	Some	1
Inborn error of lipoprotein metabolism	Is a	Inborn error of metabolism	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Familial lipoprotein deficiency (disorder)	Is a	True	Inborn error of lipoprotein metabolism	Inferred relationship	Some
Lipoprotein glomerulopathy (disorder)	Is a	True	Inborn error of lipoprotein metabolism	Inferred relationship	Some
A rare sterol biosynthesis disorder characterized by microcephaly, bilateral congenital cataract, mild developmental delay, growth delay with short stature, psoriasiform dermatitis of variable severity, and immune dysregulation. Behavioral disorder, joint contractures, and arthralgia have also been described.	Is a	True	Inborn error of lipoprotein metabolism	Inferred relationship	Some

This concept is not in any reference sets