Global developmental delay

Code	`224958001`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20020131

125145000616p12.1p12.3 triplication syndrome disorder

69931000022q13.3 deletion syndrome disorder

7707540062p21 microdeletion syndrome without cystinuria disorder

12226720023-methylglutaconic aciduria type 9 disorder

12298750029q21.13 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

1340172003CLCN6-related childhood-onset progressive neurodegeneration, peripheral neuropathy syndrome disorder

15182000Coffin-Lowry syndrome disorder

1260140008Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome 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

1300191000Congenital pontocerebellar hypoplasia type 13 disorder

1300192007Congenital pontocerebellar hypoplasia type 14 disorder

782828005Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency 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

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

1303867005Early-onset obesity, hyperphagia, severe developmental delay syndrome disorder

1169356004Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome disorder

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

1237619001Fatty acyl-CoA reductase 1 deficiency disorder

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

782722002Global developmental delay, lung cysts, overgrowth, Wilms tumour syndrome disorder

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

717813005Global developmental delay, osteopenia, ectodermal defect syndrome disorder

1172696009Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome disorder

774204006Growth retardation, mild developmental delay, chronic hepatitis syndrome disorder

1360075006Hao Fountain syndrome disorder

1360079000Hereditary persistence of fetal haemoglobin, intellectual disability syndrome disorder

1208747005ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement 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

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

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

1300128003MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome disorder

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

1230273004Megaconial congenital muscular dystrophy disorder

1260143005Megalencephaly, severe kyphoscoliosis, overgrowth syndrome disorder

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

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

703369003Microcephaly-capillary malformation syndrome disorder

1137476006Mild global developmental delay disorder

1137475005Moderate global developmental delay disorder

1187113001Mucopolysaccharidosis-like plus disease disorder

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

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

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

1172586007Ocular anomalies, axonal neuropathy, developmental delay syndrome disorder

1356735003Oculogastrointestinal neurodevelopmental syndrome disorder

1217367007PLAA-associated neurodevelopmental disorder disorder

1172899000PMP22-RAI1 contiguous gene duplication syndrome disorder

1222657001PRUNE1-related neurological syndrome disorder

768473009PURA syndrome disorder

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

1172900005Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome disorder

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

1172624000RERE-related neurodevelopmental 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

1137474009Severe global developmental delay disorder

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

763890006Short stature with delayed bone age due to thyroid hormone metabolism deficiency disorder

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

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

1255323007Spastic ataxia, dysarthria due to glutaminase deficiency disorder

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

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

778023004Syndromic multisystem autoimmune disease due to ITCH deficiency disorder

1172626003TELO2-related intellectual disability, neurodevelopmental disorder disorder

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

1222708006TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome disorder

1187249005VPS11-related autosomal recessive hypomyelinating leucodystrophy 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

Parents (1)

Children (102)