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57148006: Congenital anomaly of brain (disorder)

Status: current, Defined. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

356 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of brain Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Congenital anomaly of brain Pathological process Pathological developmental process true Inferred relationship Some 1
Congenital anomaly of brain Is a Encephalopathy 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 Is a Amyelencephalus false Inferred relationship Some
Congenital anomaly of brain Is a Encephalopathy 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 abnormality 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 Congenital anomaly false Inferred relationship Some 1
Congenital anomaly of brain Associated morphology Developmental abnormality 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 false Inferred relationship Some 1
Congenital anomaly of brain Finding site Brain structure true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Agenesis of corpus callosum Is a False Congenital anomaly of brain Inferred relationship Some
Lissencephaly Is a True Congenital anomaly of brain Inferred relationship Some
Congenital abnormal shape of cerebellum Is a False Congenital anomaly of brain Inferred relationship Some
Cerebellar cortical dysplasia Is a False Congenital anomaly of brain Inferred relationship Some
Dentate dysplasia Is a False Congenital anomaly of brain Inferred relationship Some
Hydromicrocephaly Is a True Congenital anomaly of brain Inferred relationship Some
Congenital hypoplasia of part of brain Is a False Congenital anomaly of brain Inferred relationship Some
Congenital stenosis of aqueduct of Sylvius Is a False Congenital anomaly of brain Inferred relationship Some
Congenital obstruction of aqueduct of Sylvius Is a False Congenital anomaly of brain Inferred relationship Some
Congenital leptomeningeal angiomatosis Is a False Congenital anomaly of brain Inferred relationship Some
Exencephaly Is a True Congenital anomaly of brain Inferred relationship Some
Dural arteriovenous malformation Is a False Congenital anomaly of brain Inferred relationship Some
Anencephalus Is a True Congenital anomaly of brain Inferred relationship Some
Congenital abnormal shape of cerebellum Is a False Congenital anomaly of brain Inferred relationship Some
Congenital abnormal shape of cerebrum Is a False Congenital anomaly of brain Inferred relationship Some
Hypogonadism with anosmia Is a False Congenital anomaly of brain Inferred relationship Some
Congenital brain damage Is a False Congenital anomaly of brain Inferred relationship Some
Macroencephaly Is a False Congenital anomaly of brain Inferred relationship Some
Dysgenesis of the cerebellum Is a True Congenital anomaly of brain Inferred relationship Some
Amyelencephalus Is a False Congenital anomaly of brain Inferred relationship Some
Schizencephaly Is a False Congenital anomaly of brain Inferred relationship Some
Laminar heterotopia Is a True Congenital anomaly of brain Inferred relationship Some
Nodular heterotopia Is a True Congenital anomaly of brain Inferred relationship Some
Syringobulbia Is a False Congenital anomaly of brain Inferred relationship Some
Cerebrofacial dysplasia Is a False Congenital anomaly of brain Inferred relationship Some
Holoprosencephaly sequence Is a False Congenital anomaly of brain Inferred relationship Some
Dysgenesis of corpus callosum Is a False Congenital anomaly of brain Inferred relationship Some
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a False Congenital anomaly of brain Inferred relationship Some
Microcephalic osteodysplastic dysplasia Is a False Congenital anomaly of brain Inferred relationship Some
Neu-Laxova syndrome Is a False Congenital anomaly of brain Inferred relationship Some
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 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 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
Dyke-Davidoff-Masson syndrome Is a True 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
MMEP syndrome Is a False Congenital anomaly of brain Inferred relationship Some
Autosomal recessive primary microcephaly 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 Is a False Congenital anomaly of brain Inferred relationship Some
Microcephaly with albinism and digital anomaly syndrome Is a False Congenital anomaly of brain Inferred relationship Some
Microcephaly with brachydactyly and kyphoscoliosis syndrome Is a False Congenital anomaly of brain Inferred relationship Some
Microcephaly with cardiac defect and lung malsegmentation syndrome Is a False Congenital anomaly of brain Inferred relationship Some
Microcephaly cardiomyopathy syndrome Is a False Congenital anomaly of brain Inferred relationship Some
Microcephaly cleft palate syndrome Is a False Congenital anomaly of brain Inferred relationship Some
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type 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 Is a False Congenital anomaly of brain Inferred relationship Some
Aphalangy and syndactyly with microcephaly syndrome Is a False Congenital anomaly of brain Inferred relationship Some
Filippi syndrome Is a False Congenital anomaly of brain Inferred relationship Some
Hall Riggs syndrome Is a False Congenital anomaly of brain Inferred relationship Some
Goldberg Shprintzen megacolon syndrome Is a False Congenital anomaly of brain Inferred relationship Some
Brain malformation, congenital heart disease, postaxial polydactyly syndrome Is a True Congenital anomaly of brain Inferred relationship Some
Say Barber Miller syndrome Is a False Congenital anomaly of brain Inferred relationship Some
Lowry MacLean syndrome Is a False Congenital anomaly of brain Inferred relationship Some
Congenital cerebral ventriculomegaly Is a True Congenital anomaly of brain Inferred relationship Some
Lowry Wood syndrome Is a False Congenital anomaly of brain Inferred relationship Some
Oculo-palato-cerebral syndrome Is a False Congenital anomaly of brain Inferred relationship Some
Oculocerebrofacial syndrome Kaufman type Is a False Congenital anomaly of brain Inferred relationship Some
Congenital intrauterine infection-like syndrome Is a False Congenital anomaly of brain Inferred relationship Some
Hennekam Beemer syndrome Is a False Congenital anomaly of brain Inferred relationship Some
Severe X-linked intellectual disability Gustavson type Is a False Congenital anomaly of brain Inferred relationship Some
Agammaglobulinaemia, microcephaly, craniosynostosis, severe dermatitis syndrome Is a False Congenital anomaly of brain Inferred relationship Some
Microcephaly, seizure, intellectual disability, heart disease syndrome Is a False Congenital anomaly of brain Inferred relationship Some
Microcephalic osteodysplastic dysplasia Saul Wilson type 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 Toriello type Is a False Congenital anomaly of brain Inferred relationship Some
Microcephalic primordial dwarfism due to ZNF335 deficiency Is a False Congenital anomaly of brain Inferred relationship Some
Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum Is a False Congenital anomaly of brain Inferred relationship Some
Microcephalic osteodysplastic primordial dwarfism types I and III Is a False Congenital anomaly of brain Inferred relationship Some
Epilepsy, microcephaly, skeletal dysplasia syndrome 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 Is a False Congenital anomaly of brain Inferred relationship Some
Pseudoprogeria syndrome 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
Mikati Najjar Sahli syndrome Is a False Congenital anomaly of brain Inferred relationship Some
Microcephalus, lymphoedema, chorioretinopathy syndrome Is a False Congenital anomaly of brain Inferred relationship Some
3-phosphoglycerate dehydrogenase deficiency infantile form Is a False Congenital anomaly of brain Inferred relationship Some
Deficiency of leukotriene C4 synthase 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 Is a False Congenital anomaly of brain Inferred relationship Some
Microcephalic primordial dwarfism Alazami type Is a False Congenital anomaly of brain Inferred relationship Some
Autosomal recessive chorioretinopathy and microcephaly syndrome 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, hypernatraemia syndrome Is a False Congenital anomaly of brain Inferred relationship Some
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Is a False Congenital anomaly of brain Inferred relationship Some
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome Is a False Congenital anomaly of brain Inferred relationship Some
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome Is a False Congenital anomaly of brain Inferred relationship Some
Severe neonatal onset encephalopathy with microcephaly Is a False Congenital anomaly of brain Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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