FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.24  |  FHIR Version n/a  User: [n/a]

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
Communicating hydrocephalus co-occurrent and due to congenital agenesis of arachnoid villi Is a False Congenital anomaly of brain Inferred relationship Some
Congenital porencephalic cyst Is a False Congenital anomaly of brain Inferred relationship Some
Microcephaly with deafness and intellectual disability syndrome Is a False Congenital anomaly of brain Inferred relationship Some
Hypotonia, speech impairment, severe cognitive delay syndrome Is a True Congenital anomaly of brain Inferred relationship Some
Myelomeningocoele and hydrocephalus Is a False Congenital anomaly of brain Inferred relationship Some
Spina bifida with hydrocephalus Is a False Congenital anomaly of brain Inferred relationship Some
THO complex 6-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 Is a False Congenital anomaly of brain Inferred relationship Some
Autosomal dominant primary microcephaly Is a False Congenital anomaly of brain Inferred relationship Some
HEC syndrome Is a False Congenital anomaly of brain Inferred relationship Some
Cavernous haemangioma of brain Is a False Congenital anomaly of brain Inferred relationship Some
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome 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 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 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 haemangioma of brain Is a False Congenital anomaly of brain Inferred relationship Some
RAB18, member RAS oncogene family deficiency 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 agenesis of brainstem nuclei Is a False Congenital anomaly of brain Inferred relationship Some
Congenital microencephaly Is a True Congenital anomaly of brain Inferred relationship Some
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome 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 Due to True Congenital anomaly of brain Inferred relationship Some 2
Congenital cerebellar cortical atrophy Is a False Congenital anomaly of brain Inferred relationship Some
Cranial hydromeningocele Is a False Congenital anomaly of brain Inferred relationship Some
Congenital cerebellar cortical atrophy Is a False Congenital anomaly of brain Inferred relationship Some
Congenital cerebral cyst Is a True Congenital anomaly of brain Inferred relationship Some
Macrogyria Is a False Congenital anomaly of brain Inferred relationship Some
Aqueduct of Sylvius anomaly Is a False Congenital anomaly of brain Inferred relationship Some
Agyria Is a False Congenital anomaly of brain Inferred relationship Some
Congenital absence of part of brain Is a False Congenital anomaly of brain Inferred relationship Some
Atresia of foramen of Magendie Is a False Congenital anomaly of brain Inferred relationship Some
Holoprosencephaly sequence Is a False Congenital anomaly of brain Inferred relationship Some
Congenital ischaemic atrophy of central nervous system structure Is a False Congenital anomaly of brain Inferred relationship Some
Cerebral cortical dysgenesis Is a False Congenital anomaly of brain Inferred relationship Some
Congenital syphilitic encephalitis Is a False Congenital anomaly of brain Inferred relationship Some
Congenital cerebral meningocele Is a False Congenital anomaly of brain Inferred relationship Some
Encephalo-ophthalmic dysplasia Is a False Congenital anomaly of brain Inferred relationship Some
Congenital porencephaly Is a True Congenital anomaly of brain Inferred relationship Some
Multiple anomalies of brain Is a False Congenital anomaly of brain Inferred relationship Some
Cerebellar aplasia Is a False Congenital anomaly of brain Inferred relationship Some
Congenital pontocerebellar hypoplasia Is a False Congenital anomaly of brain Inferred relationship Some
Congenital hydrocephalus Is a True Congenital anomaly of brain Inferred relationship Some
Congenital pseudoporencephaly Is a False Congenital anomaly of brain Inferred relationship Some
Microgyria Is a False Congenital anomaly of brain Inferred relationship Some
Sinus pericranii Is a False Congenital anomaly of brain Inferred relationship Some
Congenital anomaly of corpus callosum Is a False Congenital anomaly of brain Inferred relationship Some
Ectopic grey matter in centrum ovale Is a False Congenital anomaly of brain Inferred relationship Some
Encephalocele Is a True Congenital anomaly of brain Inferred relationship Some
Nasal glial heterotopia Is a False Congenital anomaly of brain Inferred relationship Some
Ulegyria Is a True Congenital anomaly of brain Inferred relationship Some
Atresia of foramen of Luschka Is a False Congenital anomaly of brain Inferred relationship Some
Status marmoratus Is a False Congenital anomaly of brain Inferred relationship Some
Coffin-Siris syndrome Is a True Congenital anomaly of brain Inferred relationship Some
Persistent cerebral embryonic artery Is a False Congenital anomaly of brain Inferred relationship Some
Cerebral arteriovenous malformation Is a False Congenital anomaly of brain Inferred relationship Some
Temporal encephalocele Is a False Congenital anomaly of brain Inferred relationship Some
Parietal encephalocele Is a False Congenital anomaly of brain Inferred relationship Some
Defect of telencephalic division Is a False Congenital anomaly of brain Inferred relationship Some
Cortical dysplasia Is a False Congenital anomaly of brain Inferred relationship Some
Colpocephaly Is a False Congenital anomaly of brain Inferred relationship Some
Dysgenesis of the cerebellum Is a False Congenital anomaly of brain Inferred relationship Some
Dysgenesis of the brainstem Is a False Congenital anomaly of brain Inferred relationship Some
Chiari malformation Is a False Congenital anomaly of brain Inferred relationship Some
Bregeat's syndrome Is a False Congenital anomaly of brain Inferred relationship Some
Atelencephaly Is a False Congenital anomaly of brain Inferred relationship Some
Aprosencephaly Is a False Congenital anomaly of brain Inferred relationship Some
Hydrencephalomeningocele Is a False Congenital anomaly of brain Inferred relationship Some
Coffin-Lowry syndrome Is a False Congenital anomaly of brain Inferred relationship Some
Borjeson-Forssman-Lehmann syndrome Is a True Congenital anomaly of brain Inferred relationship Some
Dubowitz's syndrome Is a True Congenital anomaly of brain Inferred relationship Some
Haemorrhage due to ruptured congenital cerebral aneurysm Is a False Congenital anomaly of brain Inferred relationship Some
Occipital encephalocele Is a True Congenital anomaly of brain Inferred relationship Some
Meningoencephalocele Is a False Congenital anomaly of brain Inferred relationship Some
Encephalocystocele Is a False Congenital anomaly of brain Inferred relationship Some
Multiple malformation syndrome with unusual brain and/or neuromuscular findings Is a False Congenital anomaly of brain Inferred relationship Some
Nasal encephalocele Is a False Congenital anomaly of brain Inferred relationship Some
Congenital anomaly of cerebrovascular system Is a False Congenital anomaly of brain Inferred relationship Some
Congenital anomaly of pituitary gland Is a False Congenital anomaly of brain Inferred relationship Some
Cranial hydromeningocele Is a False Congenital anomaly of brain Inferred relationship Some
Reduction deformities of brain Is a False Congenital anomaly of brain Inferred relationship Some
Anomalies of cerebrum Is a False Congenital anomaly of brain Inferred relationship Some
Cebocephaly Is a False Congenital anomaly of brain Inferred relationship Some
Congenital atresia of foramen of Magendie Is a True Congenital anomaly of brain Inferred relationship Some
Congenital atresia of foramen of Luschka Is a True Congenital anomaly of brain Inferred relationship Some
Multiple brain anomalies Is a True Congenital anomaly of brain Inferred relationship Some
Cerebrovascular system anomalies Is a False Congenital anomaly of brain Inferred relationship Some
Congenital arteriovenous fistula of brain Is a False Congenital anomaly of brain Inferred relationship Some
Congenital cerebral hernia Is a False Congenital anomaly of brain Inferred relationship Some
Hydrocephalus associated with congenital aqueduct stenosis Is a False Congenital anomaly of brain Inferred relationship Some
Cerebellar haemangioblastomatosis Is a False Congenital anomaly of brain Inferred relationship Some
Agenesis of corpus callosum Is a False Congenital anomaly of brain Inferred relationship Some

Page 1 of 2 End


Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start