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20725005: Familial visceral neuropathy (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
34872017 Familial visceral neuropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
749940012 Familial visceral neuropathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
67931000077113 neuropathie viscérale familiale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


1 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Familial visceral neuropathy Is a Disorder of peripheral autonomic nervous system false Inferred relationship Some
Familial visceral neuropathy Is a Disorder of intestine false Inferred relationship Some
Familial visceral neuropathy Is a Neuropathy false Inferred relationship Some
Familial visceral neuropathy Is a Degenerative disorder true Inferred relationship Some
Familial visceral neuropathy Is a Digestive system hereditary disorder true Inferred relationship Some
Familial visceral neuropathy Is a Hereditary peripheral neuropathy true Inferred relationship Some
Familial visceral neuropathy Is a Autosomal hereditary disorder true Inferred relationship Some
Familial visceral neuropathy Finding site A subdivision of the enteric plexus that lies within the tunica muscularis of the intestinal tract true Inferred relationship Some 1
Familial visceral neuropathy Associated morphology dégénérescence false Inferred relationship Some 1
Familial visceral neuropathy Is a Neuropathy (disorder) false Inferred relationship Some
Familial visceral neuropathy Is a Nerve plexus disorder true Inferred relationship Some
Familial visceral neuropathy Is a Lesion of soft tissue (disorder) false Inferred relationship Some
Familial visceral neuropathy Is a Disorder of soft tissue of body cavity false Inferred relationship Some
Familial visceral neuropathy Finding site A subdivision of the enteric plexus that lies within the tunica muscularis of the intestinal tract false Inferred relationship Some 1
Familial visceral neuropathy Associated morphology dégénérescence false Inferred relationship Some 1
Familial visceral neuropathy Is a Lesion of nerve root and/or plexus (disorder) false Inferred relationship Some
Familial visceral neuropathy Is a Peripheral nerve disease false Inferred relationship Some
Familial visceral neuropathy Finding site Autonomic nervous system structure false Inferred relationship Some
Familial visceral neuropathy Is a Inherited autonomic nervous system disorder (disorder) true Inferred relationship Some
Familial visceral neuropathy Is a Intestinal autonomic neuropathy true Inferred relationship Some
Familial visceral neuropathy Associated morphology Degenerative abnormality true Inferred relationship Some 1
Familial visceral neuropathy Finding site Structure of peripheral part of autonomic nervous system (body structure) false Inferred relationship Some 2
Familial visceral neuropathy Is a Disorder of soft tissue of trunk false Inferred relationship Some
Familial visceral neuropathy Is a Disorder of soft tissue of abdominal cavity true Inferred relationship Some
Familial visceral neuropathy Is a Autonomic neuropathy true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, neuropathic visceral dysmotility (resulting in neurogenic megacystis and sometimes chronic intestinal pseudo-obstruction syndrome), intracerebral calcifications, and dysmorphic facial features (including broad forehead, downslanted palpebral fissures, strabismus, protruding and low-set ears, and retrognathia). Microcephaly and renal abnormalities have also been reported. Is a True Familial visceral neuropathy Inferred relationship Some

Reference Sets

GB English

US English

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