Congenital anomaly of head
Microcephaly
||
Congenital microcephaly (disorder)
Congenital microcephaly
Congenital microcephalus
A rare neurological disorder with characteristics of reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems.
congenitale microcefalie
Id1148758003
StatusDefined
Associated morphologyCongenital smallness
Finding siteHead structure
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationBelow reference range
InterpretsBirth head circumference
PALGA thesaurus simple reference set for pathology
General Practice / Family Practice reference set
ICD-10 complex map reference set
TargetQ02
RuleTRUE
AdviceALWAYS Q02
CorrelationSNOMED CT source code to target map code correlation not specified
|
19p13.3 microduplication syndrome
3-phosphoglycerate dehydrogenase deficiency infantile form
Achalasia microcephaly syndrome
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
Amish lethal microcephaly
Anonychia with microcephaly syndrome
Aphalangy and syndactyly with microcephaly syndrome
Autosomal dominant primary microcephaly
Autosomal recessive chorioretinopathy and microcephaly syndrome
Autosomal recessive primary microcephaly
Cleft palate, large ears, small head syndrome
Congenital intrauterine infection-like syndrome
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
Epilepsy, microcephaly, skeletal dysplasia syndrome
Epiphyseal dysplasia, microcephalus, nystagmus syndrome
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
Filippi syndrome
Goldberg Shprintzen megacolon syndrome
Hadziselimovic syndrome
Hall Riggs syndrome
Hennekam Beemer syndrome
Hydromicrocephaly
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome
Jawad syndrome
Kawashima Tsuji syndrome
Lowry MacLean syndrome
MacDermot Winter syndrome
Microcephalic cortical malformations, short stature due to RTTN deficiency
Microcephalic osteodysplastic dysplasia Saul Wilson type
Microcephalic osteodysplastic primordial dwarfism type II
Microcephalic osteodysplastic primordial dwarfism types I and III
Microcephalic primordial dwarfism Alazami type
Microcephalic primordial dwarfism Dauber type
Microcephalic primordial dwarfism Montreal type
Microcephalic primordial dwarfism Toriello type
Microcephalic primordial dwarfism, insulin resistance syndrome
Microcephalus cardiomyopathy syndrome
Microcephalus cleft palate syndrome
Microcephalus with albinism and digital anomaly syndrome
Microcephalus with brachydactyly and kyphoscoliosis syndrome
Microcephalus with cardiac defect and lung malsegmentation syndrome
Microcephalus, brain defect, spasticity, hypernatremia syndrome
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
Microcephalus, complex motor and sensory axonal neuropathy syndrome
Microcephalus, glomerulonephritis, marfanoid habitus syndrome
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome
Microcephalus, lymphedema, chorioretinopathy syndrome
Microcephaly with cervical spine fusion anomaly
Microcephaly with simplified gyral pattern
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome
Microcephaly, seizure, intellectual disability, heart disease syndrome
Microcephaly-capillary malformation syndrome
MMEP syndrome
Neu-Laxova syndrome
Nijmegen breakage syndrome-like disorder
Oculocerebrofacial syndrome Kaufman type
Oculopalatocerebral syndrome
Oro-facial digital syndrome type 14
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome
Pseudoprogeria syndrome
Radioulnar synostosis with microcephaly and scoliosis syndrome
RNF13-related severe early-onset epileptic encephalopathy
Seckel syndrome
Seemanova Lesny syndrome
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome
Severe X-linked intellectual disability Gustavson type
Stimmler syndrome
TELO2-related intellectual disability, neurodevelopmental disorder
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome