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230562000: Congenital hypomyelinating neuropathy (disorder)

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

\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of nervous system (disorder)\...

\Neuropathy (disorder)\Congenital hypomyelinating neuropathy

\Congenital anomaly of nervous system\Congenital hypomyelinating neuropathy

\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Congenital hypomyelinating neuropathy
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital hypomyelinating neuropathy
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital hypomyelinating neuropathy
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital hypomyelinating neuropathy

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	Reference Sets
345474019	Congenital hypomyelinating neuropathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
345475018	Lyon's hypomyelinating neuropathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
618389011	Congenital hypomyelinating neuropathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital hypomyelinating neuropathy	Is a	Congenital polyneuropathy	false	Inferred relationship	Some
Congenital hypomyelinating neuropathy	Occurrence	Congenital	false	Inferred relationship	Some
Congenital hypomyelinating neuropathy	Is a	Congenital anomaly of the peripheral nervous system	false	Inferred relationship	Some
Congenital hypomyelinating neuropathy	Is a	Neuropathy (disorder)	true	Inferred relationship	Some
Congenital hypomyelinating neuropathy	Is a	Congenital anomaly of nervous system	true	Inferred relationship	Some
Congenital hypomyelinating neuropathy	Finding site	Peripheral nervous system structure	false	Inferred relationship	Some	1
Congenital hypomyelinating neuropathy	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Congenital hypomyelinating neuropathy	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Congenital hypomyelinating neuropathy	Finding site	Peripheral nervous system structure	false	Inferred relationship	Some	1
Congenital hypomyelinating neuropathy	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital hypomyelinating neuropathy	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	1
Congenital hypomyelinating neuropathy	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital hypomyelinating neuropathy	Finding site	Nerve structure	true	Inferred relationship	Some	1
Congenital hypomyelinating neuropathy	Associated morphology	Hypomyelination	true	Inferred relationship	Some	1
Congenital hypomyelinating neuropathy	Finding site	Nerve structure	false	Inferred relationship	Some	2
Congenital hypomyelinating neuropathy	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital hypomyelinating neuropathy	Associated morphology	Developmental anomaly (morphologic abnormality)	false	Inferred relationship	Some	2
Congenital hypomyelinating neuropathy	Finding site	Peripheral nervous system structure	false	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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