RNF13-related severe early-onset epileptic encephalopathy 1222659003
SNOMED CT code
SNOMED code | 1222659003 |
---|---|
name | RNF13-related severe early-onset epileptic encephalopathy |
status | active |
date introduced | 2022-05-31 |
fully specified name(s) | Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) |
synonyms |
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attributes - group2 | |
Interprets | Birth head circumference 169876006 |
Has interpretation | Below reference range 281300000 |
attributes - group1 | |
Occurrence | Congenital 255399007 |
Finding site | Head structure 69536005 |
Associated morphology | Congenital smallness 41086002 |
Pathological process | Pathological developmental process 308490002 |
attributes - group4 | |
Finding site | Brain structure 12738006 |
Pathological process | Pathological developmental process 308490002 |
parents |
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hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Body measurement finding 365605003 Finding of head circumference 301338002 Microcephaly 1148757008 Congenital microcephaly 1148758003 RNF13-related severe early-onset epileptic encephalopathy 1222659003 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Neurodevelopmental disorder 700364009 Developmental and epileptic encephalopathy 1275631007 RNF13-related severe early-onset epileptic encephalopathy 1222659003 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental delay 248290002 RNF13-related severe early-onset epileptic encephalopathy 1222659003 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 RNF13-related severe early-onset epileptic encephalopathy 1222659003 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Congenital malformation syndrome 400038003 Multiple system malformation syndrome 82354003 RNF13-related severe early-onset epileptic encephalopathy 1222659003 |
ancestors | sorted most to least specific
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cpt crosswalks |
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