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57148006: Congenital anomaly of brain (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
95042019 Congenital anomaly of brain en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
95047013 Deformity of brain en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
95049011 Congenital disease of brain en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
795738018 Congenital anomaly of brain (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2478759015 Congenital brain anomaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

337 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of brain Is a Disorder of brain (disorder) false Inferred relationship Some
Congenital anomaly of brain Is a Ear, face and neck congenital anomalies false Inferred relationship Some
Congenital anomaly of brain Is a Congenital anomaly of central nervous system false Inferred relationship Some
Congenital anomaly of brain Is a Congenital anomaly of head true Inferred relationship Some
Congenital anomaly of brain Associated morphology Congenital anomaly false Inferred relationship Some 1
Congenital anomaly of brain Associated morphology Developmental anomaly false Inferred relationship Some 1
Congenital anomaly of brain Occurrence Congenital false Inferred relationship Some
Congenital anomaly of brain Finding site Structure of central nervous system (body structure) false Inferred relationship Some 1
Congenital anomaly of brain Finding site Brain structure true Inferred relationship Some 1
Congenital anomaly of brain Is a Amyelencephalus (disorder) false Inferred relationship Some
Congenital anomaly of brain Is a Disorder of brain (disorder) true Inferred relationship Some
Congenital anomaly of brain Is a Congenital anomaly of central nervous system true Inferred relationship Some
Congenital anomaly of brain Finding site Brain structure false Inferred relationship Some 1
Congenital anomaly of brain Associated morphology Congenital anomaly false Inferred relationship Some 1
Congenital anomaly of brain Occurrence Congenital false Inferred relationship Some 2
Congenital anomaly of brain Associated morphology Developmental anomaly false Inferred relationship Some 2
Congenital anomaly of brain Finding site Brain structure false Inferred relationship Some 2
Congenital anomaly of brain Occurrence Congenital true Inferred relationship Some 1
Congenital anomaly of brain Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Congenital anomaly of brain Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Hydromicrocephaly Is a False Congenital anomaly of brain Inferred relationship Some
Congenital hypoplasia of brain Is a True Congenital anomaly of brain Inferred relationship Some
Cystic malformation of posterior fossa (disorder) Is a True Congenital anomaly of brain Inferred relationship Some
Hypogonadism with anosmia Is a False Congenital anomaly of brain Inferred relationship Some
Congenital brain aplasia (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Aqueduct of Sylvius anomaly Is a False Congenital anomaly of brain Inferred relationship Some
Cerebrofacial dysplasia Is a True Congenital anomaly of brain Inferred relationship Some
Kundrat's syndrome Is a False Congenital anomaly of brain Inferred relationship Some
Alobar holoprosencephaly Is a False Congenital anomaly of brain Inferred relationship Some
Dysgenesis of the brainstem Is a True Congenital anomaly of brain Inferred relationship Some
Colpocephaly Is a False Congenital anomaly of brain Inferred relationship Some
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Autosomal recessive primary microcephaly (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
3C syndrome Is a True Congenital anomaly of brain Inferred relationship Some
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Microcephalus with albinism and digital anomaly syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Microcephalus cardiomyopathy syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Microcephalus cleft palate syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Hadziselimovic syndrome Is a False Congenital anomaly of brain Inferred relationship Some
Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Is a False Congenital anomaly of brain Inferred relationship Some
Anonychia with microcephaly syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Aphalangy and syndactyly with microcephaly syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Filippi syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Hall Riggs syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Goldberg Shprintzen megacolon syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder) Is a True Congenital anomaly of brain Inferred relationship Some
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Lowry MacLean syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Congenital cerebral ventriculomegaly (disorder) Is a True Congenital anomaly of brain Inferred relationship Some
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Oculopalatocerebral syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Oculocerebrofacial syndrome Kaufman type (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Congenital intrauterine infection-like syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Severe X-linked intellectual disability Gustavson type (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Renier Gabreels Jasper syndrome Is a False Congenital anomaly of brain Inferred relationship Some
Microcephalic primordial dwarfism of Toriello type (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Stimmler syndrome Is a False Congenital anomaly of brain Inferred relationship Some
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Pseudoprogeria syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Microcephalus, digital anomaly, intellectual disability syndrome Is a False Congenital anomaly of brain Inferred relationship Some
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Microcephalus, lymphedema, chorioretinopathy syndrome Is a False Congenital anomaly of brain Inferred relationship Some
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Deficiency of leukotriene C4 synthase (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Cleft palate, large ears, small head syndrome Is a False Congenital anomaly of brain Inferred relationship Some
Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome Is a True Congenital anomaly of brain Inferred relationship Some
Microcephalus, complex motor and sensory axonal neuropathy syndrome Is a False Congenital anomaly of brain Inferred relationship Some
Oro-facial digital syndrome type 14 Is a False Congenital anomaly of brain Inferred relationship Some
Microcephalic primordial dwarfism Montreal type Is a False Congenital anomaly of brain Inferred relationship Some
Nijmegen breakage syndrome-like disorder (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Microcephalic primordial dwarfism Alazami type (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Microcephalic primordial dwarfism Dauber type Is a False Congenital anomaly of brain Inferred relationship Some
Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Severe neonatal onset encephalopathy with microcephaly (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Communicating hydrocephalus co-occurrent and due to congenital agenesis of arachnoid villi (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Congenital porencephalic cyst (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Microcephaly with deafness and intellectual disability syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Hypotonia, speech impairment, severe cognitive delay syndrome (disorder) Is a True Congenital anomaly of brain Inferred relationship Some
Myelomeningocele co-occurrent with hydrocephalus (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Spina bifida with hydrocephalus Is a False Congenital anomaly of brain Inferred relationship Some
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome Is a False Congenital anomaly of brain Inferred relationship Some
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome Is a False Congenital anomaly of brain Inferred relationship Some
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Autosomal dominant primary microcephaly Is a False Congenital anomaly of brain Inferred relationship Some
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Cavernous hemangioma of brain (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Is a False Congenital anomaly of brain Inferred relationship Some
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome Is a False Congenital anomaly of brain Inferred relationship Some
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome Is a False Congenital anomaly of brain Inferred relationship Some
Congenital anomaly of cerebrum (disorder) Is a True Congenital anomaly of brain Inferred relationship Some
Muscle eye brain disease with bilateral multicystic leukodystrophy Is a True Congenital anomaly of brain Inferred relationship Some
Vein of Galen malformation (disorder) Is a True Congenital anomaly of brain Inferred relationship Some
Congenital athetosis Is a True Congenital anomaly of brain Inferred relationship Some
Seckel syndrome Is a False Congenital anomaly of brain Inferred relationship Some
FOXG1 syndrome Is a True Congenital anomaly of brain Inferred relationship Some
Microcephaly-capillary malformation syndrome Is a False Congenital anomaly of brain Inferred relationship Some
Hereditary cavernous hemangioma of brain (disorder) Is a False Congenital anomaly of brain Inferred relationship Some
RAB18, member RAS oncogene family deficiency (disorder) Is a True Congenital anomaly of brain Inferred relationship Some
Lowe syndrome Is a True Congenital anomaly of brain Inferred relationship Some
Microcephaly with simplified gyral pattern Is a True Congenital anomaly of brain Inferred relationship Some
Congenital microencephaly (disorder) Is a True Congenital anomaly of brain Inferred relationship Some
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) Is a True Congenital anomaly of brain Inferred relationship Some
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Is a True Congenital anomaly of brain Inferred relationship Some
Epilepsy due to congenital anomaly of brain (disorder) Due to True Congenital anomaly of brain Inferred relationship Some 2

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