702439002: Agenesis of corpus callosum with peripheral neuropathy (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Andermann syndrome

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Andermann syndrome

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Andermann syndrome
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Andermann syndrome
\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Andermann syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2995109016 Agenesis of corpus callosum with polyneuropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2995425015 Charlevoix disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2995604010 Andermann syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2995673017 Agenesis of corpus callosum with peripheral neuropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2995850010 Agenesis of corpus callosum with peripheral neuropathy (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
Andermann syndrome	Is a	Hereditary motor and sensory neuropathy (disorder)	true	Inferred relationship	Some
Andermann syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Andermann syndrome	Finding site	Peripheral nervous system structure	true	Inferred relationship	Some	1

Inbound Relationships

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This concept is not in any reference sets