70528007: Mucolipidosis (disorder)

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

\Genetic disease\maladie héréditaire\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucolipidosis

\trouble métabolique\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucolipidosis
\trouble métabolique\Enzymopathy\Disorder of lysosomal enzyme\Mucolipidosis

\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucolipidosis

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

117153017 Mucolipidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

459461000241118 mucolipidose (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

810594013 Mucolipidosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

991821000172112 mucolipidose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mucolipidosis	est un(e) (attribut)	Disorder of lysosomal enzyme	true	Inferred relationship	Some
Mucolipidosis	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Mucolipidosis	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
sialidose	est un(e) (attribut)	True	Mucolipidosis	Inferred relationship	Some
I-cell disease	est un(e) (attribut)	True	Mucolipidosis	Inferred relationship	Some
Ganglioside sialidase deficiency	est un(e) (attribut)	False	Mucolipidosis	Inferred relationship	Some
Mucolipidosis type IV (disorder)	est un(e) (attribut)	True	Mucolipidosis	Inferred relationship	Some

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)