66521008: Deficiency of cerebroside-sulfatase (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Deficiency of cerebroside-sulfatase

\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Deficiency of cerebroside-sulfatase

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

\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Deficiency of cerebroside-sulfatase

\Disorder of lysosomal enzyme\Deficiency of cerebroside-sulfatase

\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Deficiency of cerebroside-sulfatase
\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Deficiency of cerebroside-sulfatase

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Deficiency of cerebroside-sulfatase
\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Deficiency of cerebroside-sulfatase

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

110523015 Deficiency of cerebroside-sulfatase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

500455017 Deficiency of cerebroside-sulphatase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

806144015 Deficiency of cerebroside-sulfatase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

110523015 Deficiency of cerebroside-sulfatase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

110523015 Deficiency of cerebroside-sulfatase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

500455017 Deficiency of cerebroside-sulphatase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

500455017 Deficiency of cerebroside-sulphatase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

806144015 Deficiency of cerebroside-sulfatase (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

806144015 Deficiency of cerebroside-sulfatase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5840151000241113 déficit en cérébroside-sulfatase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5840151000241113 déficit en cérébroside-sulfatase 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
Deficiency of cerebroside-sulfatase	Is a	Disorder of lysosomal enzyme	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of cerebroside-sulfatase	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency of cerebroside-sulfatase	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Deficiency of cerebroside-sulfatase	Finding site	Nervous system structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Deficiency of N-acetylgalactosamine-4-sulfatase	Is a	True	Deficiency of cerebroside-sulfatase	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets