SYNGAP1-related developmental and epileptic encephalopathy 1222656005
SNOMED CT code
| SNOMED code | 1222656005 |
|---|---|
| name | SYNGAP1-related developmental and epileptic encephalopathy |
| status | active |
| date introduced | 2022-05-31 |
| fully specified name(s) | Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy (disorder) |
| synonyms |
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| attributes - group2 | |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Brain structure 12738006 |
| attributes - group3 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| attributes - group4 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| parents |
|
| 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 SYNGAP1-related developmental and epileptic encephalopathy 1222656005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal dominant hereditary disorder 11164009 SYNGAP1-related developmental and epileptic encephalopathy 1222656005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Neurodevelopmental disorder 700364009 Developmental and epileptic encephalopathy 1275631007 SYNGAP1-related developmental and epileptic encephalopathy 1222656005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 SYNGAP1-related developmental and epileptic encephalopathy 1222656005 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 SYNGAP1-related developmental and epileptic encephalopathy 1222656005 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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