Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation 770431001
SNOMED CT code
SNOMED code | 770431001 |
---|---|
name | Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation |
status | active |
date introduced | 2019-01-31 |
fully specified name(s) | Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation (disorder) |
synonyms |
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attributes - group3 | |
Interprets | Intellectual ability 247573007 |
Has interpretation | Impaired 260379002 |
attributes - group4 | |
Interprets | Adaptation behavior 406208005 |
Has interpretation | Impaired 260379002 |
attributes - group1 | |
Finding site | Brain structure 12738006 |
Pathological process | Pathological developmental process 308490002 |
Occurrence | Childhood 255398004 |
parents |
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hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Mental state, behavior and/or psychosocial function finding 384821006 Behavior finding 844005 Intellectual disability 110359009 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation 770431001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal dominant hereditary disorder 11164009 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation 770431001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Neurodevelopmental disorder 700364009 Developmental and epileptic encephalopathy 1275631007 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation 770431001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation 770431001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Disorder of nervous system 118940003 Hereditary disorder of nervous system 363235000 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation 770431001 |
ancestors | sorted most to least specific
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cpt crosswalks |
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