Congenital anomaly of central nervous system (disorder)
| Code | 128124001 |
|---|---|
| Semantic tag | disorder |
| Module | international |
| Definition | defined |
| Effective time | 20020131 |
88425004Congenital anomaly of nervous system
disorder
23853001Disorder of the central nervous system
disorder
75076004Amyelencephalus
disorder
1222704008Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
disorder
1332508004CIMDAG syndrome
disorder
720855003Cerebrooculonasal syndrome
disorder
21086008Cockayne syndrome
disorder
277949001Combined malformation of central nervous system and skeletal muscle
disorder
95502000Congenital anomaly of optic nerve
disorder
44621005Congenital anomaly of organ of Corti
disorder
81042008Congenital anomaly of spinal cord
disorder
1362151001Congenital hypoplasia of corticospinal tract
disorder
57148006Congenital malformation of brain
disorder
253199003Congenital malformation of the meninges
disorder
253146009Disorder of neuronal migration and differentiation
disorder
734017008Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome
disorder
43427008Ectopic glial tissue
disorder
774070008FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome
disorder
1538006Fetal malformation of central nervous system affecting obstetrical care
disorder
722006004Isotretinoin-like syndrome
disorder
716169009Morse Rawnsley Sargent syndrome
disorder
733028000Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
disorder
1237370002Myelinated nerve fibre layer of retina
disorder
773737004NPHP3-related Meckel-like syndrome
disorder
1141661004Neurocutaneous melanosis
disorder
763834000Oro-facial digital syndrome type 12
disorder
1003881009Pelizaeus-Merzbacher disease in female carrier
disorder
1003447007Pelizaeus-Merzbacher disease null syndrome
disorder
59636002Pelizaeus-Merzbacher disease, connatal variant
disorder
733086003Pseudoprogeria syndrome
disorder
1172624000RERE-related neurodevelopmental syndrome
disorder
774208009SCALP syndrome
disorder
718095000Schisis association syndrome
disorder
1172628002TBCK-related intellectual disability syndrome
disorder
1172626003TELO2-related intellectual disability, neurodevelopmental disorder
disorder
1208998007TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
disorder
1285322008Triopia
disorder