52677002: deficiëntie van N-acetylgalactosamine-4-sulfatase (aandoening)

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\Deficiency of N-acetylgalactosamine-4-sulfatase

\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Deficiency of cerebroside-sulfatase\Deficiency of N-acetylgalactosamine-4-sulfatase

\Disorder of foetus and/or newborn\Congenital disease (disorder)\...

\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Deficiency of cerebroside-sulfatase\Deficiency of N-acetylgalactosamine-4-sulfatase

\Disorder of lysosomal enzyme\Deficiency of cerebroside-sulfatase\Deficiency of N-acetylgalactosamine-4-sulfatase

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Deficiency of cerebroside-sulfatase\Deficiency of N-acetylgalactosamine-4-sulfatase
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Deficiency of cerebroside-sulfatase\Deficiency of N-acetylgalactosamine-4-sulfatase

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Deficiency of cerebroside-sulfatase\Deficiency of N-acetylgalactosamine-4-sulfatase
\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Deficiency of cerebroside-sulfatase\Deficiency of N-acetylgalactosamine-4-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

87664011 Deficiency of N-acetylgalactosamine-4-sulfatase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

496402013 Deficiency of N-acetylgalactosamine-4-sulphatase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

790712016 Deficiency of N-acetylgalactosamine-4-sulfatase (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

6739771000146111 deficiëntie van N-acetylgalactosamine-4-sulfatase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6739791000146110 N-acetylgalactosamine-4-sulfatasedeficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8677051000146112 deficiëntie van N-acetylgalactosamine-4-sulfatase (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of N-acetylgalactosamine-4-sulfatase	Is a	Deficiency of cerebroside-sulfatase	true	Inferred relationship	Some
Deficiency of N-acetylgalactosamine-4-sulfatase	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	2
Deficiency of N-acetylgalactosamine-4-sulfatase	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Maroteaux-Lamy syndrome (disorder)	Is a	True	Deficiency of N-acetylgalactosamine-4-sulfatase	Inferred relationship	Some

Reference Sets