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726702005: Epileptic encephalopathy with global cerebral demyelination (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3451871013 Epileptic encephalopathy with global cerebral demyelination (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3451872018 Epileptic encephalopathy with global cerebral demyelination en Synonym Active Case insensitive SNOMED CT core
3451873011 Mitochondrial aspartate-glutamate carrier 1 deficiency en Synonym Active Case insensitive SNOMED CT core
3451874017 A rare mitochondrial substrate carrier disorder with characteristics of severe muscular hypotonia, seizures beginning in the first year of life and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Epileptic encephalopathy with global cerebral demyelination Is a Congenital and developmental anomalies of the nervous system false Inferred relationship Some
Epileptic encephalopathy with global cerebral demyelination Occurrence Congenital true Inferred relationship Some 1
Epileptic encephalopathy with global cerebral demyelination Associated morphology Hypomyelination true Inferred relationship Some 1
Epileptic encephalopathy with global cerebral demyelination Finding site Structure of cerebrum true Inferred relationship Some 1
Epileptic encephalopathy with global cerebral demyelination Pathological process Pathological developmental process true Inferred relationship Some 1
Epileptic encephalopathy with global cerebral demyelination Is a Congenital anomaly of cerebrum true Inferred relationship Some
Epileptic encephalopathy with global cerebral demyelination Is a Developmental hereditary disorder true Inferred relationship Some
Epileptic encephalopathy with global cerebral demyelination Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Epileptic encephalopathy with global cerebral demyelination Is a Anomalies of cerebrum false Inferred relationship Some
Epileptic encephalopathy with global cerebral demyelination Is a Mitochondrial cytopathy true Inferred relationship Some
Epileptic encephalopathy with global cerebral demyelination Is a Hereditary disorder of nervous system true Inferred relationship Some
Epileptic encephalopathy with global cerebral demyelination Is a Epileptic encephalopathy true Inferred relationship Some
Epileptic encephalopathy with global cerebral demyelination Has definitional manifestation Seizure false Inferred relationship Some
Epileptic encephalopathy with global cerebral demyelination Associated morphology Hypomyelination false Inferred relationship Some 2
Epileptic encephalopathy with global cerebral demyelination Occurrence Congenital false Inferred relationship Some 2
Epileptic encephalopathy with global cerebral demyelination Finding site Structure of cerebrum false Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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