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57148006: Congenital anomaly of brain (disorder)

Status: current, Sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
95042019 Congenital anomaly of brain en Synonym Active Entire term case insensitive SNOMED CT core module
95047013 Deformity of brain en Synonym Active Entire term case insensitive SNOMED CT core module
95049011 Congenital disease of brain en Synonym Active Entire term case insensitive SNOMED CT core module
795738018 Congenital anomaly of brain (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
2478759015 Congenital brain anomaly en Synonym Active Entire term case insensitive SNOMED CT core module
2350461000000116 Congenital malformation of brain en Synonym Active Only initial character case insensitive SNOMED CT United Kingdom Edition module

357 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of brain Is a Disorder of brain false Inferred relationship Existential restriction modifier
Congenital anomaly of brain Is a Ear, face and neck congenital anomalies false Inferred relationship Existential restriction modifier
Congenital anomaly of brain Is a Congenital anomaly of central nervous system false Inferred relationship Existential restriction modifier
Congenital anomaly of brain Is a Congenital anomaly of head true Inferred relationship Existential restriction modifier
Congenital anomaly of brain Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 1
Congenital anomaly of brain Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 1
Congenital anomaly of brain Occurrence Congenital false Inferred relationship Existential restriction modifier
Congenital anomaly of brain Finding site Structure of central nervous system false Inferred relationship Existential restriction modifier 1
Congenital anomaly of brain Finding site Brain structure true Inferred relationship Existential restriction modifier 1
Congenital anomaly of brain Is a Amyelencephalus false Inferred relationship Existential restriction modifier
Congenital anomaly of brain Is a Disorder of brain true Inferred relationship Existential restriction modifier
Congenital anomaly of brain Is a Congenital anomaly of central nervous system true Inferred relationship Existential restriction modifier
Congenital anomaly of brain Finding site Brain structure false Inferred relationship Existential restriction modifier 1
Congenital anomaly of brain Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 1
Congenital anomaly of brain Occurrence Congenital false Inferred relationship Existential restriction modifier 2
Congenital anomaly of brain Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 2
Congenital anomaly of brain Finding site Brain structure false Inferred relationship Existential restriction modifier 2
Congenital anomaly of brain Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Congenital anomaly of brain Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 1
Congenital anomaly of brain Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Hydromicrocephaly Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Congenital hypoplasia of brain Is a True Congenital anomaly of brain Inferred relationship Existential restriction modifier
Cystic malformation of posterior fossa Is a True Congenital anomaly of brain Inferred relationship Existential restriction modifier
Hypogonadism with anosmia Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Congenital brain aplasia Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Aqueduct of Sylvius anomaly Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Cerebrofacial dysplasia Is a True Congenital anomaly of brain Inferred relationship Existential restriction modifier
Kundrat's syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Alobar holoprosencephaly Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Dysgenesis of the brainstem Is a True Congenital anomaly of brain Inferred relationship Existential restriction modifier
Colpocephaly Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Autosomal recessive primary microcephaly Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Cranio-cerebello-cardiac dysplasia syndrome Is a True Congenital anomaly of brain Inferred relationship Existential restriction modifier
Radioulnar synostosis with microcephaly and scoliosis syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Microcephalus with albinism and digital anomaly syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Microcephalus with brachydactyly and kyphoscoliosis syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Microcephalus with cardiac defect and lung malsegmentation syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Microcephalus cardiomyopathy syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Microcephalus cleft palate syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Anonychia with microcephaly syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Aphalangy and syndactyly with microcephaly syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Filippi syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Hall Riggs syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Goldberg Shprintzen megacolon syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Brain malformation, congenital heart disease, postaxial polydactyly syndrome Is a True Congenital anomaly of brain Inferred relationship Existential restriction modifier
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Lowry MacLean syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Congenital cerebral ventriculomegaly Is a True Congenital anomaly of brain Inferred relationship Existential restriction modifier
Epiphyseal dysplasia, microcephalus, nystagmus syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Oculopalatocerebral syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Oculocerebrofacial syndrome Kaufman type Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Congenital intrauterine infection-like syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Cutaneous mastocytosis, short stature, hearing loss syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Severe X-linked intellectual disability Gustavson type Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Microcephaly, seizure, intellectual disability, heart disease syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Microcephalic osteodysplastic dysplasia Saul Wilson type Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Renier Gabreels Jasper syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Microcephalic primordial dwarfism of Toriello type Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Microcephalic osteodysplastic primordial dwarfism types I and III Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Epilepsy, microcephaly, skeletal dysplasia syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Microcephalus, glomerulonephritis, marfanoid habitus syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Pseudoprogeria syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Microcephalus, digital anomaly, intellectual disability syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Microcephalus, lymphedema, chorioretinopathy syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
3-phosphoglycerate dehydrogenase deficiency infantile form Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Deficiency of leukotriene C4 synthase Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Cleft palate, large ears, small head syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome Is a True Congenital anomaly of brain Inferred relationship Existential restriction modifier
Microcephalus, complex motor and sensory axonal neuropathy syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Oro-facial digital syndrome type 14 Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Microcephalic primordial dwarfism Montreal type Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Nijmegen breakage syndrome-like disorder Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Microcephalic primordial dwarfism Alazami type Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Autosomal recessive chorioretinopathy and microcephaly syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Microcephalic primordial dwarfism Dauber type Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Microcephalus, brain defect, spasticity, hypernatremia syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Severe neonatal onset encephalopathy with microcephaly Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Communicating hydrocephalus co-occurrent and due to congenital agenesis of arachnoid villi Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Congenital porencephalic cyst Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Microcephaly with deafness and intellectual disability syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Hypotonia, speech impairment, severe cognitive delay syndrome Is a True Congenital anomaly of brain Inferred relationship Existential restriction modifier
Myelomeningocele co-occurrent with hydrocephalus Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Spina bifida with hydrocephalus Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Autosomal dominant primary microcephaly Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Hydrocephalus with endocardial fibroelastosis and cataract syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Cavernous hemangioma of brain Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Congenital anomaly of cerebrum Is a True Congenital anomaly of brain Inferred relationship Existential restriction modifier
Muscle eye brain disease with bilateral multicystic leukodystrophy Is a True Congenital anomaly of brain Inferred relationship Existential restriction modifier
Vein of Galen malformation Is a True Congenital anomaly of brain Inferred relationship Existential restriction modifier
Congenital athetosis Is a True Congenital anomaly of brain Inferred relationship Existential restriction modifier
Seckel syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
FOXG1 syndrome Is a True Congenital anomaly of brain Inferred relationship Existential restriction modifier
Microcephaly-capillary malformation syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
Hereditary cavernous hemangioma of brain Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier
RAB18, member RAS oncogene family deficiency Is a True Congenital anomaly of brain Inferred relationship Existential restriction modifier
Lowe syndrome Is a True Congenital anomaly of brain Inferred relationship Existential restriction modifier
Microcephaly with simplified gyral pattern Is a True Congenital anomaly of brain Inferred relationship Existential restriction modifier
Congenital microencephaly Is a True Congenital anomaly of brain Inferred relationship Existential restriction modifier
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome Is a True Congenital anomaly of brain Inferred relationship Existential restriction modifier
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Is a True Congenital anomaly of brain Inferred relationship Existential restriction modifier
Epilepsy due to congenital anomaly of brain Due to True Congenital anomaly of brain Inferred relationship Existential restriction modifier 2

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