19604005: triglyceridenstapelingsziekte met ichthyose (aandoening)

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

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Triglyceride storage disease with ichthyosis

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Triglyceride storage disease with ichthyosis

\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal muscle\Triglyceride storage disease with ichthyosis

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Disorder of lysosomal enzyme\Lipid storage disease\Triglyceride storage disease with ichthyosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Triglyceride storage disease with ichthyosis
\Disease\Disorder of muscle\Disorder of skeletal muscle\Triglyceride storage disease with ichthyosis
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Lipid storage disease\Triglyceride storage disease with ichthyosis
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Lipid storage disease\Triglyceride storage disease with ichthyosis
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Triglyceride storage disease with ichthyosis

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Triglyceride storage disease with ichthyosis	Is a	Myopathy	false	Inferred relationship	Some
Triglyceride storage disease with ichthyosis	Is a	Lipid storage disease	true	Inferred relationship	Some
Triglyceride storage disease with ichthyosis	Is a	Congenital anomaly of skeletal muscle	false	Inferred relationship	Some
Triglyceride storage disease with ichthyosis	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Triglyceride storage disease with ichthyosis	Finding site	Leucocyte	false	Inferred relationship	Some	1
Triglyceride storage disease with ichthyosis	Associated morphology	Vacuolation	false	Inferred relationship	Some	1
Triglyceride storage disease with ichthyosis	Occurrence	Congenital	true	Inferred relationship	Some	2
Triglyceride storage disease with ichthyosis	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Triglyceride storage disease with ichthyosis	Is a	Disorder of skeletal muscle	true	Inferred relationship	Some
Triglyceride storage disease with ichthyosis	Is a	Hereditary disorder of immune system	false	Inferred relationship	Some
Triglyceride storage disease with ichthyosis	Is a	Disorder of immune structure (disorder)	false	Inferred relationship	Some
Triglyceride storage disease with ichthyosis	Finding site	Leucocyte	false	Inferred relationship	Some	1
Triglyceride storage disease with ichthyosis	Associated morphology	Vacuolation	false	Inferred relationship	Some	1
Triglyceride storage disease with ichthyosis	Is a	Hereditary myopathy (disorder)	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
33007019	Triglyceride storage disease with ichthyosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
33008012	Chanarin-Dorfman disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
33009016	Chanarin-Miranda syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
33010014	Ichthyosiform erythroderma with leukocyte vacuolation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
33011013	Ichthyotic neutral lipid storage disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
33013011	Neutral lipid storage disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
33014017	Lipid storage myopathy AND congenital ichthyosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
479721011	Ichthyosiform erythroderma with leucocyte vacuolation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
747907012	Triglyceride storage disease with ichthyosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6070911000146112	triglyceridenstapelingsziekte met ichthyose	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6070921000146119	triglyceridenstapelingsziekte met ichthyose (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7071941000146116	syndroom van Chanarin-Dorfman	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7072001000146111	Chanarin-Dorfman-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)