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723359002: Familial acute necrotizing encephalopathy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
3424225010 Familial acute necrotizing encephalopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424226011 Familial acute necrotising encephalopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424227019 Recurrent acute necrotizing encephalopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424228012 Recurrent acute necrotising encephalopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403010017 Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterized by neuropathological lesions principally involving the brainstem, thalamus and putamen. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403011018 Familial acute necrotising encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3424224014 Familial acute necrotizing encephalopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424225010 Familial acute necrotizing encephalopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424226011 Familial acute necrotising encephalopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424227019 Recurrent acute necrotizing encephalopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424228012 Recurrent acute necrotising encephalopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5403010017 Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterized by neuropathological lesions principally involving the brainstem, thalamus and putamen. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403011018 Familial acute necrotising encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3419941001000116 Enzephalopathie, akute nekrotisierende, familiäre Form de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
914221000172114 ADANE - autosomal dominant acute necrotizing encephalopathy fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1003281000172116 encéphalopathie nécrosante aigüe familiale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
914221000172114 ADANE - autosomal dominant acute necrotizing encephalopathy fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1003281000172116 encéphalopathie nécrosante aigüe familiale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3419941001000116 Enzephalopathie, akute nekrotisierende, familiäre Form de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Familial acute necrotizing encephalopathy (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Familial acute necrotizing encephalopathy (disorder) Is a syndrome cérébral non spécifique false Inferred relationship Existential restriction modifier (core metadata concept)
Familial acute necrotizing encephalopathy (disorder) Is a Familial disease true Inferred relationship Existential restriction modifier (core metadata concept)
Familial acute necrotizing encephalopathy (disorder) Is a Traumatic or nontraumatic brain injury true Inferred relationship Existential restriction modifier (core metadata concept)
Familial acute necrotizing encephalopathy (disorder) Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Familial acute necrotizing encephalopathy (disorder) Is a Necrosis of anatomical site (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Familial acute necrotizing encephalopathy (disorder) Associated morphology Acute necrosis (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial acute necrotizing encephalopathy (disorder) Finding site Brain structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial acute necrotizing encephalopathy (disorder) Is a Lesion of brain (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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