43465001: aangeboren defect van lipoproteïnemetabolisme (aandoening)

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

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

\Disorder of foetus and/or newborn\Congenital disease (disorder)\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
72500011 Inborn error of lipoprotein metabolism, NOS en Synonym (core metadata concept) Inactive Only initial character 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
6039801000146111 aangeboren defect van lipoproteïnemetabolisme nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6039811000146113 aangeboren defect van lipoproteïnemetabolisme (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6039821000146115 'inborn error' van lipoproteïnemetabolisme nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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	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
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome	Is a	True	Inborn error of lipoprotein metabolism	Inferred relationship	Some

This concept is not in any reference sets