Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome 1187042007
SNOMED CT code
SNOMED code | 1187042007 |
---|---|
name | Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome |
status | active |
date introduced | 2021-11-30 |
fully specified name(s) | Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome (disorder) |
synonyms | Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome |
attributes - group2 | |
Finding site | Cerebrum 83678007 |
attributes - group1 | |
Occurrence | Congenital 255399007 |
Finding site | Face structure 89545001 |
Associated morphology | Morphologically abnormal structure 49755003 |
Pathological process | Pathological developmental process 308490002 |
attributes - group3 | |
Interprets | Intellectual ability 247573007 |
Has interpretation | Impaired 260379002 |
attributes - group4 | |
Interprets | Adaptation behavior 406208005 |
Has interpretation | Impaired 260379002 |
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 seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome 1187042007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental delay 248290002 Global developmental delay 224958001 Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome 1187042007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome 1187042007 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 seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome 1187042007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of head 118934005 Disorder of face 118930001 Congenital anomaly of face 398302004 Multiple malformation syndrome with facial defects as major feature 65094009 Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome 1187042007 SNOMED CT Concept 138875005 Clinical finding 404684003 Central nervous system finding 246556002 Finding of brain 299718000 Seizure 91175000 Seizure disorder 128613002 Epilepsy 84757009 Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome 1187042007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome 1187042007 |
ancestors | sorted most to least specific
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cpt crosswalks |
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