FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.2  |  FHIR Version n/a  User: [n/a]

715437003: Neuronal intranuclear inclusion disease (disorder)


Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3302624014 Neuronal intranuclear inclusion disease (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3302625010 Neuronal intranuclear inclusion disease en Synonym Active Case insensitive SNOMED CT core
3302627019 A very rare multisystem neurodegenerative disorder characterised by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss. Infantile, juvenile, and adult-onset cases have been described. As any part of the nervous system can be affected (central, peripheral, and autonomic nervous systems), the clinical manifestations depend on the sites involved, and widely vary. The most common neurological signs include ataxia, extra-pyramidal signs (tremor and oculogyral crises), lower motor neuron findings (absent deep tendon reflexes, weakness, muscle wasting, foot deformities), and less apparent behavioural or cognitive difficulties. Most cases are sporadic. en Definition Active Case sensitive SNOMED CT core
3303339011 A very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss. Infantile, juvenile, and adult-onset cases have been described. As any part of the nervous system can be affected (central, peripheral, and autonomic nervous systems), the clinical manifestations depend on the sites involved, and widely vary. The most common neurological signs include ataxia, extra-pyramidal signs (tremor and oculogyral crises), lower motor neuron findings (absent deep tendon reflexes, weakness, muscle wasting, foot deformities), and less apparent behavioral or cognitive difficulties. Most cases are sporadic. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Neuronal intranuclear inclusion disease Is a Neurological disorder true Inferred relationship Some
Neuronal intranuclear inclusion disease Is a Multisystem disorder false Inferred relationship Some
Neuronal intranuclear inclusion disease Finding site Structure of nervous system true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start