Congenital anomaly of central nervous system 128124001 SNOMED CT code
SNOMED code 128124001 name Congenital anomaly of central nervous system status active date introduced 2002-01-31 fully specified name(s) Congenital anomaly of central nervous system (disorder) synonyms Congenital anomaly of central nervous system Congenital malformation of central nervous system attributes - group1 Associated morphology Morphologically abnormal structure 49755003 Pathological process Pathological developmental process 308490002 Occurrence Congenital 255399007 Finding site Central nervous system structure 21483005 parents Disorder of the central nervous system 23853001 Congenital anomaly of nervous system 88425004 children Amyelencephalus 75076004 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy 1222704008 Central nervous system malformation in fetus affecting obstetrical care 1538006 Cerebral gigantism jaw cysts syndrome 725418006 removed: 2020-01-31 Cerebrooculonasal syndrome 720855003 Cockayne syndrome 21086008 Combined malformation of central nervous system and skeletal muscle 277949001 Congenital anomaly of brain 57148006 Congenital anomaly of optic nerve 95502000 Congenital anomaly of organ of Corti 44621005 Congenital anomaly of spinal cord 81042008 Congenital malformation of the meninges 253199003 Disorder of neuronal migration and differentiation 253146009 Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome 734017008 Ectopic glial tissue 43427008 FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome 774070008 Isotretinoin-like syndrome 722006004 Morse Rawnsley Sargent syndrome 716169009 Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome 733028000 Myelinated nerve fiber layer of retina 1237370002 NPHP3-related Meckel-like syndrome 773737004 Oro-facial digital syndrome type 12 763834000 Pelizaeus-Merzbacher disease in female carrier 1003881009 Pelizaeus-Merzbacher disease null syndrome 1003447007 Pelizaeus-Merzbacher disease, connatal variant 59636002 Pseudoprogeria syndrome 733086003 RERE-related neurodevelopmental syndrome 1172624000 SCALP syndrome 774208009 Schisis association syndrome 718095000 TBCK-related intellectual disability syndrome 1172628002 TELO2-related intellectual disability, neurodevelopmental disorder 1172626003 TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome 1208998007 Triopia 1285322008 hierarchies
a selection of possible pathsSNOMED CT Concept
138875005 Clinical finding 404684003 Central nervous system finding 246556002 Disorder of the central nervous system 23853001 Congenital anomaly of central nervous system 128124001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Disorder of nervous system 118940003 Congenital anomaly of nervous system 88425004 Congenital anomaly of central nervous system 128124001 ancestors
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