Multiple congenital anomalies, hypotonia, seizures syndrome type 2 773643006
SNOMED CT code
| SNOMED code | 773643006 |
|---|---|
| name | Multiple congenital anomalies, hypotonia, seizures syndrome type 2 |
| status | active |
| date introduced | 2019-01-31 |
| fully specified name(s) | Multiple congenital anomalies, hypotonia, seizures syndrome type 2 (disorder) |
| synonyms |
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| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Finding site | Brain structure 12738006 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group1 | |
| Finding site | Face structure 89545001 |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| parents |
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| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Sex-linked hereditary disorder 82852009 X-linked hereditary disease 128430005 X-linked recessive hereditary disease 1162976004 Multiple congenital anomalies, hypotonia, seizures syndrome type 2 773643006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Neurodevelopmental disorder 700364009 Developmental and epileptic encephalopathy 1275631007 Multiple congenital anomalies, hypotonia, seizures syndrome type 2 773643006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Inborn error of metabolism 86095007 Inherited metabolic disorder of nervous system 128190004 Multiple congenital anomalies, hypotonia, seizures syndrome type 2 773643006 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 Multiple congenital anomalies, hypotonia, seizures syndrome type 2 773643006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Multiple congenital anomalies, hypotonia, seizures syndrome type 2 773643006 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 Multiple congenital anomalies, hypotonia, seizures syndrome type 2 773643006 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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