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 |