Neurodevelopmental delay

Code	`1137472008`
Semantic tag	disorder
Module	international
Definition	defined
Effective time	20250801

122988200311q22.2q22.3 microdeletion syndrome disorder

122987300917q24.2 microdeletion syndrome disorder

69931000022q13.3 deletion syndrome disorder

7707540062p21 microdeletion syndrome without cystinuria disorder

12226720023-methylglutaconic aciduria type 9 disorder

12298950088q24.3 microdeletion syndrome disorder

12298750029q21.13 microdeletion syndrome disorder

12288860089q33.3q34.11 microdeletion syndrome disorder

771512003Autism spectrum disorder due to AUTS2 deficiency disorder

1255319004Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome disorder

1237625002Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency disorder

771476007Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome disorder

1187644009Basel Vanagaite Smirin Yosef syndrome disorder

1237417007CAD-CDG - carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation disorder

1332384001CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome disorder

1299154002CDK13-related congenital heart defects, intellectual disability, facial dysmorphism syndrome disorder

773230003CDKL5 developmental and epileptic encephalopathy disorder

1179408008CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome disorder

1332510002CHD4-related neurodevelopmental disorder disorder

307653008Clumsiness - motor delay disorder

15182000Coffin-Lowry syndrome disorder

1279845005Combined oxidative phosphorylation defect type 39 disorder

1255322002Congenital contracture of limbs and face, hypotonia, developmental delay syndrome disorder

1208936008Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome disorder

1172594000Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome disorder

782757004Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome disorder

1300188000Congenital pontocerebellar hypoplasia type 11 disorder

1300192007Congenital pontocerebellar hypoplasia type 14 disorder

703477003Developmental delay in fine motor function disorder

770790004Developmental delay with autism spectrum disorder and gait instability disorder

787093004Developmental delay, facial dysmorphism syndrome due to MED13L deficiency disorder

1380254000Developmental delay, language impairment, dopa responsive dystonia, parkinsonism syndrome disorder

1340176000Developmental delay, overweight, facial dysmorphism, behavioural abnormalities syndrome disorder

1172627007Early-onset epilepsy, intellectual disability, brain anomalies syndrome disorder

1187042007Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome disorder

1237179007FG syndrome type 1 disorder

1237619001Fatty acyl-CoA reductase 1 deficiency disorder

1260195002GRIN2B-related developmental delay, intellectual disability, autism spectrum disorder disorder

1222658006Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome disorder

1172630000Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome disorder

430099007Gross motor development delay disorder

1360075006Hao Fountain syndrome disorder

1360079000Hereditary persistence of fetal haemoglobin, intellectual disability syndrome disorder

1217371005Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome disorder

1260450002Infantile multisystem neurologic, endocrine, pancreatic disease disorder

1186729007Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome disorder

782753000Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome disorder

773581009Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome disorder

1351838008Intellectual disability, early-onset cataract, microcephaly syndrome disorder

773552008Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome disorder

787174003Intellectual disability, hyperkinetic movement, truncal ataxia syndrome disorder

1254652005Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome disorder

1208746001Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome disorder

1177167002Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome disorder

774203000Intellectual disability, severe speech delay, mild dysmorphism syndrome disorder

1373748007Intellectual disability, speech delay, dysmorphic features, T cell abnormalities syndrome disorder

1251453008Lamb Shaffer syndrome disorder

1351843001Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome disorder

1303866001MYT1L-related developmental delay, intellectual disability, obesity syndrome disorder

1172685001Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome disorder

1230273004Megaconial congenital muscular dystrophy disorder

1260143005Megalencephaly, severe kyphoscoliosis, overgrowth syndrome disorder

1260095004Menke Hennekam syndrome disorder

1363286000Mesomelic dysplasia, digital anomalies, intellectual disability syndrome disorder

1187195007Microcephalic cortical malformations, short stature due to RTTN deficiency disorder

1254650002Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome disorder

1254651003Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome disorder

1300131002NRXN1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance disorder

1303586006Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome disorder

1363573005Neurodevelopmental delay, intellectual disability, ataxia, feeding difficulty syndrome disorder

1217381009Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome disorder

1222710008Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome disorder

1373561009Neuronal ceroid lipofuscinosis type 2 disorder

1356735003Oculogastrointestinal neurodevelopmental syndrome disorder

1236843008PDE4D haploinsufficiency syndrome disorder

1217367007PLAA-associated neurodevelopmental disorder disorder

1172899000PMP22-RAI1 contiguous gene duplication syndrome disorder

702356009PPM-X syndrome disorder

1222657001PRUNE1-related neurological syndrome disorder

1260097007PUM1-associated developmental disability, ataxia, seizure syndrome disorder

768473009PURA syndrome disorder

1172889005Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome disorder

870308001Pervasive developmental disorder with cognitive developmental delay and complete impairment of functional language disorder

1220594007Pierpont syndrome disorder

1269233006Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome disorder

702346005Potocki-Shaffer syndrome disorder

1269236003Primary hypomagnesaemia, refractory seizures, intellectual disability syndrome disorder

782825008Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome disorder

1208481000Progressive cerebello-cerebral atrophy disorder

1260130005Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome disorder

1187303004Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome disorder

1172624000RERE-related neurodevelopmental syndrome disorder

1222659003RNF13-related severe early-onset epileptic encephalopathy disorder

1208488006SATB2-associated syndrome disorder

1300119004SETD2-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome disorder

1367656002SLC12A2-related developmental delay, intellectual disability, sensorineural deafness syndrome disorder

1300198006SMARCA2-related blepharophimosis, intellectual disability syndrome disorder

1187041000STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome disorder

1172629005Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome disorder

1187277001Short stature, brachydactyly, obesity, global developmental delay syndrome disorder

1284851009Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome disorder

773556006Short ulna, dysmorphism, hypotonia, intellectual disability syndrome disorder

1177175008Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome disorder

1260134001Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome disorder

1187278006Spastic paraplegia, severe developmental delay, epilepsy syndrome disorder

1237418002Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome disorder

773303005Spondyloepimetaphyseal dysplasia Genevieve type disorder

1172626003TELO2-related intellectual disability, neurodevelopmental disorder disorder

773554009THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome disorder

1187249005VPS11-related autosomal recessive hypomyelinating leucodystrophy disorder

1187247007WAC-related facial dysmorphism, developmental delay, behavioural abnormalities syndrome disorder

1172697000X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability disorder

1217228004X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome disorder

1237420004X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome disorder

1255335006X-linked intellectual disability, short stature, overweight syndrome disorder

1229872004Xq25 microduplication syndrome disorder

59252009de Barsey syndrome disorder

Parents (2)

Children (117)