10741005: Lipid storage disease (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

\Genetic disease\maladie héréditaire\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\maladie de surchage lipidique

\trouble métabolique\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\maladie de surchage lipidique
\trouble métabolique\Enzymopathy\Disorder of lysosomal enzyme\maladie de surchage lipidique
\trouble métabolique\troubles du métabolisme des lipoprotéines et/ou des lipides\Disorder of lipid storage and metabolism\maladie de surchage lipidique

\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\maladie de surchage lipidique

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

1003171000172111 maladie de surchage lipidique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

18656011 Lipid storage disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

18659016 Lipidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3010913012 Lipidoses en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

393471000241111 maladie de surchage lipidique (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

590743014 Lipid storage disease (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
maladie de surchage lipidique	est un(e) (attribut)	Disorder of lipid storage and metabolism	true	Inferred relationship	Some
maladie de surchage lipidique	est un(e) (attribut)	Disorder of lysosomal enzyme	true	Inferred relationship	Some
maladie de surchage lipidique	survenue (attribut)	congénital	true	Inferred relationship	Some	1
maladie de surchage lipidique	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Family history: Triglyceride high (situation)	constatation associée (attribut)	False	maladie de surchage lipidique	Inferred relationship	Some	1
Retinal dystrophy in systemic lipidosis	est un(e) (attribut)	True	maladie de surchage lipidique	Inferred relationship	Some
lipoïdose cérébrale	est un(e) (attribut)	True	maladie de surchage lipidique	Inferred relationship	Some
Fabry's disease	est un(e) (attribut)	True	maladie de surchage lipidique	Inferred relationship	Some
Triglyceride storage disease with ichthyosis	est un(e) (attribut)	True	maladie de surchage lipidique	Inferred relationship	Some
sialidose	est un(e) (attribut)	False	maladie de surchage lipidique	Inferred relationship	Some
Genetic disorder of lipid storage (disorder)	est un(e) (attribut)	True	maladie de surchage lipidique	Inferred relationship	Some
Sphingomyelin/cholesterol lipidosis (disorder)	est un(e) (attribut)	True	maladie de surchage lipidique	Inferred relationship	Some
Fucosidosis	est un(e) (attribut)	False	maladie de surchage lipidique	Inferred relationship	Some
I-cell disease	est un(e) (attribut)	True	maladie de surchage lipidique	Inferred relationship	Some
Salla disease	est un(e) (attribut)	True	maladie de surchage lipidique	Inferred relationship	Some
Retinal dystrophy in cerebroretinal lipidosis	est un(e) (attribut)	True	maladie de surchage lipidique	Inferred relationship	Some
Pulmonary lipid storage disease	est un(e) (attribut)	True	maladie de surchage lipidique	Inferred relationship	Some
Lipid storage myopathy	est un(e) (attribut)	True	maladie de surchage lipidique	Inferred relationship	Some
Chemically-induced lipidosis	est un(e) (attribut)	True	maladie de surchage lipidique	Inferred relationship	Some
Xanthomatosis, familial	est un(e) (attribut)	True	maladie de surchage lipidique	Inferred relationship	Some
Cerebral degeneration associated with generalized lipidosis (disorder)	Due to	True	maladie de surchage lipidique	Inferred relationship	Some	2

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)