11380006: Mucopolysaccharidosis (disorder)

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

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Mucopolysaccharidosis

\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Storage disease\Mucopolysaccharidosis

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Mucopolysaccharidosis
\Metabolic disease\Enzymopathy\Mucopolysaccharidosis

Status: current. Date: 31-Jan 2002

Descriptions:

Id Description Lang Type Status Case? Module

19694018 Mucopolysaccharidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
19695017 Mucopolysaccharidosis, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
388474016 MPS - Mucopolysaccharidosis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
652628017 Mucopolysaccharidosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mucopolysaccharidosis	Is a	Storage disease	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Mucopolysaccharidosis	Is a	Enzymopathy	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Mucopolysaccharidosis	Occurrence	Congenital	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Mucopolysaccharidosis, MPS-II	Is a	True	Mucopolysaccharidosis	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly

This concept is not in any reference sets