Seizures, scoliosis, macrocephaly syndrome 1187250005
SNOMED CT code
| SNOMED code | 1187250005 |
|---|---|
| name | Seizures, scoliosis, macrocephaly syndrome |
| status | active |
| date introduced | 2021-11-30 |
| fully specified name(s) | Seizures, scoliosis, macrocephaly syndrome (disorder) |
| synonyms |
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| attributes - group5 | |
| Occurrence | Congenital 255399007 |
| attributes - group3 | |
| Finding site | Brain structure 12738006 |
| attributes - group4 | |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group2 | |
| Interprets | Head circumference 363812007 |
| Has interpretation | Above reference range 281302008 |
| attributes - group1 | |
| Finding site | Musculoskeletal structure of spine 289959001 |
| Associated morphology | Lateral abnormal curvature 31739005 |
| attributes - group6 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group7 | |
| Interprets | Adaptation behavior 406208005 |
| 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 Seizures, scoliosis, macrocephaly syndrome 1187250005 SNOMED CT Concept 138875005 Clinical finding 404684003 Body measurement finding 365605003 Finding of head circumference 301338002 Macrocephaly 1145403003 Seizures, scoliosis, macrocephaly syndrome 1187250005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Inborn error of metabolism 86095007 Inherited metabolic disorder of nervous system 128190004 Seizures, scoliosis, macrocephaly syndrome 1187250005 SNOMED CT Concept 138875005 Clinical finding 404684003 Central nervous system finding 246556002 Finding of brain 299718000 Seizure 91175000 Seizure disorder 128613002 Seizures, scoliosis, macrocephaly syndrome 1187250005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Inborn error of metabolism 86095007 Disorder of glycoprotein metabolism 238045003 Carbohydrate-deficient glycoprotein syndrome 238049009 Seizures, scoliosis, macrocephaly syndrome 1187250005 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Scoliosis deformity of spine 298382003 Seizures, scoliosis, macrocephaly syndrome 1187250005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Seizures, scoliosis, macrocephaly syndrome 1187250005 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 Seizures, scoliosis, macrocephaly syndrome 1187250005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Seizures, scoliosis, macrocephaly syndrome 1187250005 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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