230560008: Congenital polyneuropathy (disorder)

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

\General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\Polyneuropathy\Congenital polyneuropathy
\General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\Congenital anomaly of peripheral nerve\Congenital polyneuropathy
\General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Polyneuropathy\Congenital polyneuropathy
\General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Congenital anomaly of peripheral nerve\Congenital polyneuropathy

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of the peripheral nervous system\Congenital anomaly of peripheral nerve\Congenital polyneuropathy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Peripheral nerve disease\Polyneuropathy\Congenital polyneuropathy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Peripheral nerve disease\Congenital anomaly of peripheral nerve\Congenital polyneuropathy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of the peripheral nervous system\Congenital anomaly of peripheral nerve\Congenital polyneuropathy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Peripheral nerve disease\Polyneuropathy\Congenital polyneuropathy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Peripheral nerve disease\Congenital anomaly of peripheral nerve\Congenital polyneuropathy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Congenital anomaly of the peripheral nervous system\Congenital anomaly of peripheral nerve\Congenital polyneuropathy
\Disease\Disorder of soft tissue\Peripheral nerve disease\Polyneuropathy\Congenital polyneuropathy
\Disease\Disorder of soft tissue\Peripheral nerve disease\Congenital anomaly of peripheral nerve\Congenital polyneuropathy
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of the peripheral nervous system\Congenital anomaly of peripheral nerve\Congenital polyneuropathy

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2015. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

345472015 Congenital polyneuropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

618386016 Congenital polyneuropathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4959981000241114 polyneuropathie congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2419481000195117 Kongenitale Polyneuropathie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital polyneuropathy	Is a	Neuropathy	false	Inferred relationship	Some
Congenital polyneuropathy	Is a	Congenital anomaly of the peripheral nervous system	false	Inferred relationship	Some
Congenital polyneuropathy	Finding site	Peripheral nervous system structure	false	Inferred relationship	Some	1
Congenital polyneuropathy	Finding site	Nerve structure	false	Inferred relationship	Some
Congenital polyneuropathy	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital polyneuropathy	Is a	Neuropathy (disorder)	false	Inferred relationship	Some
Congenital polyneuropathy	Is a	Polyneuropathy	true	Inferred relationship	Some
Congenital polyneuropathy	Is a	Congenital anomaly of nervous system	false	Inferred relationship	Some
Congenital polyneuropathy	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital polyneuropathy	Is a	Congenital anomaly of the peripheral nervous system	false	Inferred relationship	Some
Congenital polyneuropathy	Finding site	Peripheral nervous system structure	false	Inferred relationship	Some	2
Congenital polyneuropathy	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital polyneuropathy	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital polyneuropathy	Finding site	Peripheral nervous system structure	false	Inferred relationship	Some	1
Congenital polyneuropathy	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Congenital polyneuropathy	Finding site	Peripheral nerve structure	false	Inferred relationship	Some	2
Congenital polyneuropathy	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital polyneuropathy	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Congenital polyneuropathy	Is a	Congenital anomaly of peripheral nerve	true	Inferred relationship	Some
Congenital polyneuropathy	Finding site	Peripheral nerve structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital neuropathy with arthrogryposis multiplex congenita	Is a	False	Congenital polyneuropathy	Inferred relationship	Some
Congenital hypomyelinating neuropathy	Is a	False	Congenital polyneuropathy	Inferred relationship	Some
Late congenital syphilitic polyneuropathy	Is a	False	Congenital polyneuropathy	Inferred relationship	Some
A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination.	Is a	True	Congenital polyneuropathy	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
345472015	Congenital polyneuropathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
618386016	Congenital polyneuropathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4959981000241114	polyneuropathie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
2419481000195117	Kongenitale Polyneuropathie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module