61172008: Infantile fucosidosis (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\...

\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Fucosidosis\Infantile fucosidosis

\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Fucosidosis\Infantile fucosidosis

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fucosidosis\Infantile fucosidosis

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Fucosidosis\Infantile fucosidosis
\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Fucosidosis\Infantile fucosidosis
\Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Fucosidosis\Infantile fucosidosis
\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\Fucosidosis\Infantile fucosidosis

\Congenital disease (disorder)\Inborn error of metabolism\Disorder of glycoprotein metabolism\Oligosaccharidosis (disorder)\Fucosidosis\Infantile fucosidosis
\Congenital disease (disorder)\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Oligosaccharidosis (disorder)\Fucosidosis\Infantile fucosidosis
\Congenital disease (disorder)\Disorder of lysosomal enzyme\Oligosaccharidosis (disorder)\Fucosidosis\Infantile fucosidosis

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

101657019 Infantile fucosidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

101658012 Fucosidosis, type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

101659016 Fucosidosis, fatal infantile type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

800205014 Infantile fucosidosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1232183016 Fucosidosis type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

792951000052115 infantil fukosidos sv Synonym (core metadata concept) Active Entire term 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
Infantile fucosidosis	Is a	Fucosidosis	true	Inferred relationship	Some
Infantile fucosidosis	Finding site	Bone structure	false	Inferred relationship	Some	1
Infantile fucosidosis	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Infantile fucosidosis	Occurrence	Congenital	false	Inferred relationship	Some
Infantile fucosidosis	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Infantile fucosidosis	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Infantile fucosidosis	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Infantile fucosidosis	Finding site	Bone structure	false	Inferred relationship	Some	1
Infantile fucosidosis	Occurrence	Congenital	true	Inferred relationship	Some	2
Infantile fucosidosis	Finding site	Bone structure	false	Inferred relationship	Some	2
Infantile fucosidosis	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	2
Infantile fucosidosis	Occurrence	Congenital	false	Inferred relationship	Some	1
Infantile fucosidosis	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Infantile fucosidosis	Occurrence	Infancy	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets