27148008: Hereditary motor end-plate disease (disorder)

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

\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor end-plate disease

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor end-plate disease
\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Neuromuscular junction disorder\Hereditary motor end-plate disease
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary motor end-plate disease
\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Neuromuscular junction disorder\Hereditary motor end-plate disease

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

45400010 Hereditary motor end-plate disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

757682012 Hereditary motor end-plate disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5603541000172119 maladie de la plaque motrice héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4713961000172112 hereditaire aandoening van motorische eindplaat nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4713971000172115 erfelijke aandoening van neuromusculaire overgang nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary motor end-plate disease	Is a	Neuromuscular junction disorder	true	Inferred relationship	Some
Hereditary motor end-plate disease	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Hereditary motor end-plate disease	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Hereditary motor end-plate disease	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some
Hereditary motor end-plate disease	Finding site	Neuromuscular junction (cell structure)	true	Inferred relationship	Some	1
Hereditary motor end-plate disease	Is a	Hereditary disease	false	Inferred relationship	Some

Inbound Relationships

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This concept is not in any reference sets