26745009: Mucopolysaccharidosis type I-H/S (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)\Mucopolysaccharidosis\Mucopolysaccharidosis, MPS-I\Mucopolysaccharidosis, MPS-I-H/S

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Mucopolysaccharidosis, MPS-I\Mucopolysaccharidosis, MPS-I-H/S

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Mucopolysaccharidosis\Mucopolysaccharidosis, MPS-I\Mucopolysaccharidosis, MPS-I-H/S
\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Mucopolysaccharidosis\Mucopolysaccharidosis, MPS-I\Mucopolysaccharidosis, MPS-I-H/S
\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Mucopolysaccharidosis, MPS-I\Mucopolysaccharidosis, MPS-I-H/S

\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Mucopolysaccharidosis\Mucopolysaccharidosis, MPS-I\Mucopolysaccharidosis, MPS-I-H/S
\Congenital disease (disorder)\Disorder of lysosomal enzyme\Mucopolysaccharidosis\Mucopolysaccharidosis, MPS-I\Mucopolysaccharidosis, MPS-I-H/S

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

44770015 Mucopolysaccharidosis, MPS-I-H/S en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

44771016 Hurler-Scheie syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

44772011 L-iduronidase deficiency, Hurler-Scheie type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

483333016 Hurler-Scheie disease MPS type 1H/S en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2971450019 Mucopolysaccharidosis type I-H/S (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2971919011 Mucopolysaccharidosis type I-H/S en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

844411000052114 mukopolysackaridos typ I H/S, MPS1-H/S sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mucopolysaccharidosis, MPS-I-H/S	Is a	Mucopolysaccharidosis, MPS-I	true	Inferred relationship	Some
Mucopolysaccharidosis, MPS-I-H/S	Occurrence	Congenital	true	Inferred relationship	Some	1
Mucopolysaccharidosis, MPS-I-H/S	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

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Active

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This concept is not in any reference sets