Congenital microcephaly

Code	`1148758003`
Semantic tag	disorder
Module	international
Definition	defined
Effective time	20210731

122988300819p13.3 microduplication syndrome disorder

7336370013-phosphoglycerate dehydrogenase deficiency infantile form disorder

1332385000AMeD syndrome disorder

718573009Achalasia microcephaly syndrome disorder

722281001Agammaglobulinaemia, microcephaly, craniosynostosis, severe dermatitis syndrome disorder

702437000Amish lethal microcephaly disorder

720494009Anonychia with microcephaly syndrome disorder

720498007Aphalangy and syndactyly with microcephaly syndrome disorder

778070003Autosomal dominant primary microcephaly disorder

770404004Autosomal recessive chorioretinopathy and microcephaly syndrome disorder

715981004Autosomal recessive primary microcephaly disorder

1332508004CIMDAG syndrome disorder

1237475006Cerebellar-facial-dental syndrome disorder

763130006Cleft palate, large ears, small head syndrome disorder

722390006Congenital intrauterine infection-like syndrome disorder

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

1300192007Congenital pontocerebellar hypoplasia type 14 disorder

1236845001DONSON-related microcephaly, short stature, limb abnormalities spectrum disorder

782737003Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome disorder

733031004Epilepsy, microcephaly, skeletal dysplasia syndrome disorder

721975004Epiphyseal dysplasia, microcephalus, nystagmus syndrome disorder

771179007Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome disorder

720954000Filippi syndrome disorder

717822006Goldberg Shprintzen megacolon syndrome disorder

719395001Hadziselimovic syndrome disorder

721008000Hall Riggs syndrome disorder

722453009Hennekam Beemer syndrome disorder

78071008Hydromicrocephaly disorder

773665006Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome disorder

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

722455002Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome disorder

771470001Jawad syndrome disorder

716112005Kawashima Tsuji syndrome disorder

721974000Lowry MacLean syndrome disorder

715533002MMEP syndrome disorder

716023007MacDermot Winter syndrome disorder

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

723404002Microcephalic osteodysplastic dysplasia Saul Wilson type disorder

1208348002Microcephalic osteodysplastic primordial dwarfism type II disorder

725461009Microcephalic osteodysplastic primordial dwarfism types I and III disorder

770564004Microcephalic primordial dwarfism Alazami type disorder

770565003Microcephalic primordial dwarfism Dauber type disorder

765758008Microcephalic primordial dwarfism Montreal type disorder

715482004Microcephalic primordial dwarfism Toriello type disorder

1220596009Microcephalic primordial dwarfism, insulin resistance syndrome disorder

719380003Microcephalus cardiomyopathy syndrome disorder

719394002Microcephalus cleft palate syndrome disorder

719377004Microcephalus with albinism and digital anomaly syndrome disorder

719378009Microcephalus with brachydactyly and kyphoscoliosis syndrome disorder

719379001Microcephalus with cardiac defect and lung malsegmentation syndrome disorder

770655004Microcephalus, brain defect, spasticity, hypernatraemia syndrome disorder

764732004Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome disorder

763798008Microcephalus, complex motor and sensory axonal neuropathy syndrome disorder

733472005Microcephalus, glomerulonephritis, marfanoid habitus syndrome disorder

733092009Microcephalus, hypergonadotropic hypogonadism, short stature syndrome disorder

733604003Microcephalus, lymphoedema, chorioretinopathy syndrome disorder

715462003Microcephaly with cervical spine fusion anomaly disorder

1003373003Microcephaly with simplified gyral pattern disorder

1279889005Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome disorder

721903007Microcephaly, hypogammaglobulinaemia, abnormal immunity syndrome disorder

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

773305003Microcephaly, polymicrogyria, corpus callosum agenesis syndrome disorder

723304001Microcephaly, seizure, intellectual disability, heart disease syndrome disorder

703369003Microcephaly-capillary malformation syndrome disorder

1237462006NDE1-related microhydranencephaly disorder

77817004Neu-Laxova syndrome disorder

766753005Nijmegen breakage syndrome-like disorder disorder

722056009Oculocerebrofacial syndrome Kaufman type disorder

722055008Oculopalatocerebral syndrome disorder

763837007Oro-facial digital syndrome type 14 disorder

15552004Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts disorder

782825008Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome disorder

782755007Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome disorder

733086003Pseudoprogeria syndrome disorder

1222659003RNF13-related severe early-onset epileptic encephalopathy disorder

719162001Radioulnar synostosis with microcephaly and scoliosis syndrome disorder

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

57917004Seckel syndrome disorder

715464002Seemanova Lesny syndrome disorder

722213009Severe X-linked intellectual disability Gustavson type disorder

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

1208727002Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome disorder

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

733072002Stimmler syndrome disorder

1172626003TELO2-related intellectual disability, neurodevelopmental disorder disorder

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

771148008X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome disorder

1197588008X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome disorder

Synonyms

Parents (2)

Children (88)