230562000: Congenital hypomyelinating neuropathy (disorder)

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

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital hypomyelinating neuropathy

\Disorder of body system\Disorder of nervous system (disorder)\...

\Neuropathy (disorder)\Congenital hypomyelinating neuropathy

\Congenital anomaly of nervous system\Congenital hypomyelinating neuropathy

\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

345474019 Congenital hypomyelinating neuropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

345475018 Lyon's hypomyelinating neuropathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

618389011 Congenital hypomyelinating 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
Congenital hypomyelinating neuropathy	Is a	Congenital polyneuropathy	false	Inferred relationship	Some
Congenital hypomyelinating neuropathy	Occurrence	Congenital	false	Inferred relationship	Some
Congenital hypomyelinating neuropathy	Finding site	Peripheral nervous system structure	false	Inferred relationship	Some	1
Congenital hypomyelinating neuropathy	Finding site	Nerve structure	false	Inferred relationship	Some	2
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	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	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital hypomyelinating neuropathy	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Congenital hypomyelinating neuropathy	Finding site	Peripheral nervous system structure	false	Inferred relationship	Some	2
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	Is a	Congenital anomaly of nervous system	true	Inferred relationship	Some

Inbound Relationships

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This concept is not in any reference sets