70528007: Mucolipidosis (disorder)

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

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Mucolipidosis

\Disorder of foetus and/or newborn\Congenital disease\...

\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Mucolipidosis

\Disorder of lysosomal enzyme\Mucolipidosis

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Mucolipidosis
\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Mucolipidosis
\Metabolic disease\Enzymopathy\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

117153017 Mucolipidosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

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 Only initial character 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

3388851001000114 Mukolipidose de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

991821000172112 mucolipidose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

991821000172112 mucolipidose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3388851001000114 Mukolipidose de Synonym (core metadata concept) Active Entire term case sensitive (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	Existential restriction modifier (core metadata concept)
Mucolipidosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mucolipidosis	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Mucolipidosis	Is a	Lysosomal storage disease (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)

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

This concept is not in any reference sets