34420000: Storage disease (disorder)

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

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

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

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

Status: current. Date: 31-Jan 2002

Descriptions:

Id Description Lang Type Status Case? Module

57457012 Storage disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
57458019 Storage disease, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
213736015 Thesaurosis en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
765941013 Storage disease (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
Storage disease	Is a	Inborn error of metabolism	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Storage disease	Occurrence	Congenital	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Glycogen storage disease, muscular form	Is a	True	Storage disease	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Glycogen phosphorylase kinase deficiency	Is a	True	Storage disease	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Mucopolysaccharidosis	Is a	True	Storage disease	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Glycogenosis with glucoaminophosphaturia	Is a	True	Storage disease	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Glycogen storage disease, hepatic form	Is a	True	Storage disease	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Glycogen synthase deficiency	Is a	True	Storage disease	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly

This concept is not in any reference sets