70528007: Mucolipidosis (disorder)

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

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucolipidosis

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Mucolipidosis
\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Mucolipidosis

\Congenital disease (disorder)\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

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 Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mucolipidosis	Is a	Disorder of lysosomal enzyme	true	Inferred relationship	Some
Mucolipidosis	Occurrence	Congenital	true	Inferred relationship	Some	1
Mucolipidosis	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Ganglioside sialidase deficiency	Is a	False	Mucolipidosis	Inferred relationship	Some
Sialidosis	Is a	True	Mucolipidosis	Inferred relationship	Some
I-cell disease	Is a	True	Mucolipidosis	Inferred relationship	Some
Mucolipidosis type IV (disorder)	Is a	True	Mucolipidosis	Inferred relationship	Some

This concept is not in any reference sets