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12738006: Brain structure (body structure)


Status: current, Not 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
21867017 Brain en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
474135016 Brain structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
731463013 Brain structure (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4152011000005116 struktur af encefalon da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)


1913 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Brain structure Is a Intracranial structure true Inferred relationship Some
Brain structure del af Entire cranial cavity false Additional relationship Some
Brain structure del af Entire central nervous system false Additional relationship Some
Brain structure Is a Brain and spinal cord structure (body structure) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Cerebromeningeal hemorrhage Finding site True Brain structure Inferred relationship Some 1
Neonatal cerebral hemorrhage Finding site False Brain structure Inferred relationship Some 2
Spontaneous cerebral haemorrhage Finding site False Brain structure Inferred relationship Some 2
Lacunar hemorrhage Finding site True Brain structure Inferred relationship Some 2
Intracerebral hemorrhage, multiple localized Finding site True Brain structure Inferred relationship Some 2
Fetal cerebral hemorrhage Finding site False Brain structure Inferred relationship Some 2
Cerebral hemorrhage Finding site True Brain structure Inferred relationship Some 2
Hemorrhage due to ruptured congenital cerebral aneurysm Finding site True Brain structure Inferred relationship Some 2
Cerebral hemorrhage due to intrapartum anoxia or hypoxia (disorder) Finding site False Brain structure Inferred relationship Some 2
Cerebral hemorrhage due to trauma Finding site True Brain structure Inferred relationship Some 1
Post mortem-røntgenundersøgelse - hjernen Procedure site - Direct (attribute) False Brain structure Inferred relationship Some 2
Dementia due to multiple sclerosis with altered behaviour Finding site True Brain structure Inferred relationship Some 3
Cavernous hemangioma of brain (disorder) Finding site False Brain structure Inferred relationship Some 2
Venous hemangioma of brain (disorder) Finding site False Brain structure Inferred relationship Some 2
Closed fracture of vault of skull with loss of consciousness Finding site False Brain structure Inferred relationship Some 2
Open fracture of vault of skull with loss of consciousness Finding site False Brain structure Inferred relationship Some 3
Closed fracture of base of skull with loss of consciousness Finding site True Brain structure Inferred relationship Some 3
Psychotic disorder caused by phencyclidine (disorder) Finding site False Brain structure Inferred relationship Some 2
Familial encephalopathy with neuroserpin inclusion bodies Finding site True Brain structure Inferred relationship Some 1
Dentatorubral-pallidoluysian atrophy Finding site False Brain structure Inferred relationship Some
Frontotemporal dementia with parkinsonism-17 Finding site True Brain structure Inferred relationship Some 1
FOXG1 syndrome Finding site False Brain structure Inferred relationship Some 2
Multiple brain anomalies Finding site False Brain structure Inferred relationship Some 2
Ectopic gray matter in centrum ovale Finding site False Brain structure Inferred relationship Some 2
Congenital brain damage Finding site True Brain structure Inferred relationship Some 2
Congenital pseudoporencephaly Finding site False Brain structure Inferred relationship Some 2
Sporadic megalencephaly (disorder) Finding site False Brain structure Inferred relationship Some 1
Hydranencephaly (disorder) Finding site False Brain structure Inferred relationship Some 2
Encefalooftalmisk dysplasi Finding site False Brain structure Inferred relationship Some 2
Microgyria Finding site False Brain structure Inferred relationship Some 2
Familial megalencephaly Finding site False Brain structure Inferred relationship Some 1
Hydranencephaly with proliferative vasculopathy Finding site False Brain structure Inferred relationship Some 2
Meningoencephalocele Finding site True Brain structure Inferred relationship Some 3
Posterior fossa arachnoid cyst (disorder) Finding site False Brain structure Inferred relationship Some 1
Congenital hypoplasia of brain Finding site True Brain structure Inferred relationship Some 1
Cystic malformation of posterior fossa (disorder) Finding site False Brain structure Inferred relationship Some 1
Congenital porencephaly Finding site False Brain structure Inferred relationship Some 2
Congenital anomaly of brain Finding site False Brain structure Inferred relationship Some 2
Hydromyelocele med hydrocephalus Finding site False Brain structure Inferred relationship Some 6
Nasofrontal encephalocele Finding site False Brain structure Inferred relationship Some 5
Macroencephaly Finding site False Brain structure Inferred relationship Some 1
Myelocele with hydrocephalus Finding site False Brain structure Inferred relationship Some 6
Ulegyria Finding site False Brain structure Inferred relationship Some 2
Cerebral cortical dysgenesis Finding site False Brain structure Inferred relationship Some 2
dysgenese af corpus callosum Finding site False Brain structure Inferred relationship Some 2
Kallmans syndrom hos kvinde Finding site False Brain structure Inferred relationship Some 2
Nasal glial heterotopia Finding site False Brain structure Inferred relationship Some 3
Nasopharyngeal encephalocele Finding site False Brain structure Inferred relationship Some 5
Congenital hydrocephalus Finding site False Brain structure Inferred relationship Some 3
Exencephaly Finding site False Brain structure Inferred relationship Some 5
Congenital bilateral perisylvian syndrome (disorder) Finding site False Brain structure Inferred relationship Some 2
Persistent Blake's pouch cyst Finding site False Brain structure Inferred relationship Some 1
Spina bifida with hydrocephalus of late onset Finding site False Brain structure Inferred relationship Some 5
Hemimegalencephaly Finding site False Brain structure Inferred relationship Some 1
Nasal encephalocele Finding site False Brain structure Inferred relationship Some 5
Dyke-Davidoff-Masson syndrome Finding site False Brain structure Inferred relationship Some 2
Hypogonadism with anosmia Finding site False Brain structure Inferred relationship Some 2
Congenital cerebral meningocele Finding site False Brain structure Inferred relationship Some 4
Status marmoratus Finding site False Brain structure Inferred relationship Some 2
Hydrencefalomeningocele Finding site False Brain structure Inferred relationship Some 3
Kranielt hydromeningocele Finding site False Brain structure Inferred relationship Some 5
Nasofrontal encephalocele Finding site False Brain structure Inferred relationship Some 4
Nasopharyngeal encephalocele Finding site False Brain structure Inferred relationship Some 4
Rachischisis with hydrocephalus Finding site False Brain structure Inferred relationship Some 8
Nasal encephalocele Finding site False Brain structure Inferred relationship Some 4
Occipital encephalocele Finding site True Brain structure Inferred relationship Some 3
Encephalocystocele Finding site False Brain structure Inferred relationship Some 4
Congenital brain aplasia (disorder) Finding site True Brain structure Inferred relationship Some 1
Acquired brain injury Finding site False Brain structure Inferred relationship Some 1
Macrogyria (disorder) Finding site False Brain structure Inferred relationship Some 3
Single congenital cerebral cyst Finding site True Brain structure Inferred relationship Some 1
Colloid cyst of third ventricle Finding site False Brain structure Inferred relationship Some 2
Multiple congenital cerebral cysts Finding site True Brain structure Inferred relationship Some 1
Congenital cerebral cyst Finding site True Brain structure Inferred relationship Some 1
Complete partial seizure of uncertain origin Finding site False Brain structure Inferred relationship Some 1
Cerebrofacial dysplasia Finding site False Brain structure Inferred relationship Some 3
reduktionsdeformiteter af hjernen Finding site False Brain structure Inferred relationship Some 2
Aprosencephaly Finding site False Brain structure Inferred relationship Some 2
Borjeson-Forssman-Lehmann syndrome Finding site False Brain structure Inferred relationship Some 2
Coffin-Siris syndrome Finding site False Brain structure Inferred relationship Some 2
Dubowitz's syndrome Finding site False Brain structure Inferred relationship Some 2
A rare X-linked syndromic intellectual disability with characteristics of global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Severe clinical presentation was reported in the first male patients described. Following the wide application of molecular genetic testing, the phenotype is now recognized as very variable. Caused by pathogenic variations in the RPS6KA3 gene (Xp22.2-p22.1), which encodes ribosomal protein S6 kinase alpha-3, a growth-factor-regulated protein kinase. An X-linked dominant disorder, about two-thirds of cases occur de novo. Male offspring inheriting the mutation are affected and female carriers can be unaffected or show milder phenotypes. Finding site False Brain structure Inferred relationship Some 1
Dysexecutive syndrome (disorder) Finding site True Brain structure Inferred relationship Some 1
Congenital hydrocephalus caused by toxoplasmosis Finding site False Brain structure Inferred relationship Some 4
Hypoxic ischemic encephalopathy (disorder) Finding site True Brain structure Inferred relationship Some 3
Mild hypoxic ischemic encephalopathy (disorder) Finding site True Brain structure Inferred relationship Some 3
Moderate hypoxic ischemic encephalopathy Finding site True Brain structure Inferred relationship Some 3
Severe hypoxic ischemic encephalopathy (disorder) Finding site True Brain structure Inferred relationship Some 3
Hypoxic ischaemic encephalopathy due to strangulation Finding site True Brain structure Inferred relationship Some 4
Hypoxic ischaemic encephalopathy due to cardiac arrest Finding site True Brain structure Inferred relationship Some 4
PPM-X syndrome Finding site False Brain structure Inferred relationship Some 2
Hepatic coma due to acute hepatitis B with delta agent (disorder) Finding site True Brain structure Inferred relationship Some 5
Megalencephaly-capillary malformation syndrome Finding site False Brain structure Inferred relationship Some 4
Megalencephalic leukoencephalopathy with subcortical cysts Finding site False Brain structure Inferred relationship Some 3
Knobloch syndrome is defined by vitreoretinal and macular degeneration, and occipital encephalocele. The disease has characteristics of early-onset severe myopia (usually becoming apparent in the first year of life), vitreoretinal degeneration with retinal detachment, macular abnormalities, and midline encephalocele (mainly in the occipital region). The syndrome is clinically and genetically heterogeneous with three forms, KNO1, KNO2 and KNO3, being defined. KNO1 is caused by inactivating mutations in the collagen XVIII/endostatin gene (COL18A1) mapped to 21q22.3. The KNO2 form was defined when linkage to the KNO1 locus was excluded in a family reported from New Zealand. Recently, a novel type of KS (KNO3) was mapped to chromosome 17q11.2. Inherited as an autosomal recessive trait. Finding site False Brain structure Inferred relationship Some 10
Dubowitz's syndrome Finding site True Brain structure Inferred relationship Some 1
Coffin-Siris syndrome Finding site True Brain structure Inferred relationship Some 1
Borjeson-Forssman-Lehmann syndrome Finding site True Brain structure Inferred relationship Some 1
Extradural hemorrhage following injury with open intracranial wound AND concussion Finding site True Brain structure Inferred relationship Some 3
Congenital porencephaly Finding site False Brain structure Inferred relationship Some 3
Intracranial hemorrhage following injury with open intracranial wound AND concussion Finding site True Brain structure Inferred relationship Some 1

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Reference Sets

Anatomy structure and entire association reference set (foundation metadata concept)

Anatomy structure and part association reference set (foundation metadata concept)

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