73123008: Mucopolysaccharidosis type I-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-S

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

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

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

121445012 Mucopolysaccharidosis, MPS-I-S en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

121446013 Scheie's syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

121447016 L-iduronidase deficiency, Scheie type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

1233589015 Mucopolysaccharidosis type I mild form en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

1233590012 Mucopolysaccharidosis type I-S en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

1233591011 MPS 1-S - Mucopolysaccharidosis type I-S en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

1233592016 Scheie disease MPS type 1S en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2972072010 Mucopolysaccharidosis type I-S (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

844421000052118 mukopolysackaridos typ I S, MPS1S 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-S	Is a	Mucopolysaccharidosis, MPS-I	true	Inferred relationship	Some
Mucopolysaccharidosis, MPS-I-S	Finding site	Body system structure	false	Inferred relationship	Some
Mucopolysaccharidosis, MPS-I-S	Severity	Mild	false	Inferred relationship	Some
Mucopolysaccharidosis, MPS-I-S	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets