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23880008: Congenital anomaly of peripheral nerve (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2004. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
196321016 Congenital anomaly of peripheral nerve en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
753451018 Congenital anomaly of peripheral nerve (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5949151000241113 anomalie congénitale nerveuse périphérique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5949161000241111 anomalie congénitale d'un nerf périphérique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

25 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of peripheral nerve Is a Congenital anomaly of the peripheral nervous system true Inferred relationship Some
Congenital anomaly of peripheral nerve Finding site Peripheral nerve structure false Inferred relationship Some 1
Congenital anomaly of peripheral nerve Occurrence Congenital false Inferred relationship Some
Congenital anomaly of peripheral nerve Is a Neuropathy false Inferred relationship Some
Congenital anomaly of peripheral nerve Is a Neuropathy (disorder) false Inferred relationship Some
Congenital anomaly of peripheral nerve Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of peripheral nerve Is a Peripheral nerve finding false Inferred relationship Some
Congenital anomaly of peripheral nerve Is a Lesion of soft tissue (disorder) false Inferred relationship Some
Congenital anomaly of peripheral nerve Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of peripheral nerve Finding site Peripheral nerve structure false Inferred relationship Some 1
Congenital anomaly of peripheral nerve Is a Peripheral nerve disease true Inferred relationship Some
Congenital anomaly of peripheral nerve Occurrence Congenital false Inferred relationship Some 2
Congenital anomaly of peripheral nerve Associated morphology anomalie du développement false Inferred relationship Some 2
Congenital anomaly of peripheral nerve Finding site Peripheral nerve structure false Inferred relationship Some 2
Congenital anomaly of peripheral nerve Occurrence Congenital true Inferred relationship Some 1
Congenital anomaly of peripheral nerve Finding site Peripheral nerve structure true Inferred relationship Some 1
Congenital anomaly of peripheral nerve Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital anomaly of peripheral nerve Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Agenesis of nerve (disorder) Is a False Congenital anomaly of peripheral nerve Inferred relationship Some
Defective development of cauda equina Is a False Congenital anomaly of peripheral nerve Inferred relationship Some
Developmental displacement of brachial plexus Is a True Congenital anomaly of peripheral nerve Inferred relationship Some
Aganglionosis of parasympathetic nerve ganglia Is a False Congenital anomaly of peripheral nerve Inferred relationship Some
Aganglionosis of Auerbach's plexus Is a True Congenital anomaly of peripheral nerve Inferred relationship Some
dysgénésie de la queue de cheval Is a False Congenital anomaly of peripheral nerve Inferred relationship Some
Immature ganglionosis of large intestine (disorder) Is a True Congenital anomaly of peripheral nerve Inferred relationship Some
Congenital hypoganglionosis of large intestine (disorder) Is a True Congenital anomaly of peripheral nerve Inferred relationship Some
Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal. Is a True Congenital anomaly of peripheral nerve Inferred relationship Some
Duane's syndrome Is a True Congenital anomaly of peripheral nerve Inferred relationship Some
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 Congenital anomaly of peripheral nerve Inferred relationship Some
Peripheral demyelinating neuropathy-central dysmyelinating leucodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterised by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity. Is a True Congenital anomaly of peripheral nerve Inferred relationship Some
Total intestinal aganglionosis Is a True Congenital anomaly of peripheral nerve Inferred relationship Some
Congenital polyneuropathy Is a True Congenital anomaly of peripheral nerve Inferred relationship Some
Congenital anomaly of cauda equina Is a True Congenital anomaly of peripheral nerve Inferred relationship Some
A rare otorhinolaryngological malformation characterised by a hypoplastic or absent cochlear nerve, resulting in variable hearing loss or total deafness, depending on the quantity of nerve fibres present. The condition can be unilateral or bilateral, occur as an isolated malformation or in the context of a complex syndrome, and may be associated with a hypoplastic internal auditory or cochlear nerve canal. Is a True Congenital anomaly of peripheral nerve Inferred relationship Some
Congenital hypoplasia of vestibular nerve (disorder) Is a True Congenital anomaly of peripheral nerve Inferred relationship Some

Reference Sets

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