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723359002: Familial acute necrotizing encephalopathy (disorder)


Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3424224014 Familial acute necrotizing encephalopathy (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3424225010 Familial acute necrotizing encephalopathy en Synonym Active Case insensitive SNOMED CT core
3424226011 Familial acute necrotising encephalopathy en Synonym Active Case insensitive SNOMED CT core
3424227019 Recurrent acute necrotizing encephalopathy en Synonym Active Case insensitive SNOMED CT core
3424228012 Recurrent acute necrotising encephalopathy en Synonym Active Case insensitive SNOMED CT core
3424229016 A potentially fatal neurological disease with characteristics of neuropathological lesions principally involving the brainstem, thalamus and putamen. It has been described in 11 members of one family. Onset occurs during early childhood, typically a few days after a febrile illness. Manifestations include vomiting, seizures, spasticity, language regression, rigidity and abnormal posturing of the head. Residual neurologic impairment (muscle weakness, speech disturbance, intellectual deficit and mood disorders) persists in some patients. The disease is chronic in one out of two cases. The mode of transmission appears to be autosomal dominant with incomplete penetrance. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Familial acute necrotising encephalopathy Is a Lesion of brain true Inferred relationship Some
Familial acute necrotising encephalopathy Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Familial acute necrotising encephalopathy Is a Non-specific brain syndrome false Inferred relationship Some
Familial acute necrotising encephalopathy Is a Familial disease true Inferred relationship Some
Familial acute necrotising encephalopathy Is a Traumatic or nontraumatic brain injury true Inferred relationship Some
Familial acute necrotising encephalopathy Is a Hereditary disorder of nervous system true Inferred relationship Some
Familial acute necrotising encephalopathy Is a Necrosis of anatomical site true Inferred relationship Some
Familial acute necrotising encephalopathy Associated morphology Acute necrosis true Inferred relationship Some 1
Familial acute necrotising encephalopathy Finding site Brain structure 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

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