Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Coccidioides infection of the central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Computed tomography of central nervous system for radiotherapy planning (procedure) |
Procedure site - Direct (attribute) |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder) |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Acute nonparalytic poliomyelitis (disorder) |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Acute paralytic poliomyelitis, bulbar |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
poliomyélite aiguë avec paralysie sauf bulbaire |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Acute paralytic non-bulbar poliomyelitis |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Acute paralytic poliomyelitis, vaccine-associated |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Acute paralytic poliomyelitis, wild virus, imported |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Acute paralytic poliomyelitis, wild virus, indigenous |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Abortive poliomyelitis (disorder) |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Acute paralytic poliomyelitis |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Infantile paralysis (disorder) |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Acute poliomyelitis (disorder) |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Epidemic acute poliomyelitis (disorder) |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Anterior acute poliomyelitis (disorder) |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Acute nonparalytic poliomyelitis caused by human poliovirus 1 (disorder) |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Acute bulbar poliomyelitis caused by Human poliovirus 2 (disorder) |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Acute poliomyelitis caused by Human poliovirus 1 |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Acute bulbar poliomyelitis caused by Human poliovirus 1 |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Acute paralytic poliomyelitis due to Human poliovirus 1 (disorder) |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Acute paralytic poliomyelitis caused by Human poliovirus 2 |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Acute paralytic poliomyelitis due to Human poliovirus 3 (disorder) |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Cerebrooculonasal syndrome |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Infection of central nervous system caused by Herpes simplex virus (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Juvenile primary lateral sclerosis (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Isotretinoin embryopathy-like syndrome (disorder) |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Central nervous system complication of anesthesia during the puerperium (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Galloway Mowat syndrome (disorder) |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Injury of central nervous system due to birth trauma (disorder) |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Increased cerebrospinal fluid production |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Facial onset sensory and motor neuronopathy syndrome (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Histoplasma infection of central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case. |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Malignant glioma of central nervous system |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
syndrome de gigantisme cérébral-kystes maxillaires |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Glioma of central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autonomic nervous system disorder co-occurrent and due to neurodegenerative disorder (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Epilepsy co-occurrent and due to demyelinating disorder (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Progressive relapsing multiple sclerosis (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Demyelination of central nervous system co-occurrent and due to neurosarcoidosis (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Demyelination of central nervous system co-occurrent and due to neurosarcoidosis (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Demyelination of central nervous system co-occurrent and due to neurosarcoidosis (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Demyelination of central nervous system due to Behcet disease |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Demyelination of central nervous system co-occurrent and due to mitochondrial disease (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Demyelination of central nervous system co-occurrent and due to systemic lupus erythematosus (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Demyelination of central nervous system co-occurrent and due to Sjogren disease (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Functional hemiparesis (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992. |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Superficial siderosis of central nervous system |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare, genetic, inborn error of metabolism disorder characterized by neonatal-onset of developmental delay, hypotonia, hepatomegaly, lactic acidemia, increased creatine kinase levels, elevated alpha-ketoglutaric acid in urine, and a decreased plasma beta-hydroxybutyrate-to-acetoacetate ratio. Pyruvate dehydrogenase deficiency can be associated, leading to hypoglycemia and neurologic anomalies, including seizures. |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
3-phosphoglycerate dehydrogenase deficiency juvenile form (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Adult familial nephronophthisis with spastic quadriparesia syndrome |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
D-2(OH) glutaric aciduria |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
L-2(OH) glutaric aciduria |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
2-hydroxyglutaric aciduria |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Ganglioneuroblastoma of central nervous system |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterised by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay. |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Embryonal neuroepithelial neoplasm of central nervous system |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Diffuse large B-cell lymphoma of central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Neuroblastoma of central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Central nervous system cyst fluid specimen (specimen) |
Specimen source topography |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder) |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Pyridoxine-dependent epilepsy (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Flaccid hemiplegia of left dominant side (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Flaccid hemiplegia of left nondominant side (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Flaccid hemiplegia of right dominant side (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Flaccid hemiplegia of right nondominant side |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hemiplegia of left dominant side (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hemiplegia of left nondominant side |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hemiplegia of right dominant side |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hemiplegia of right nondominant side |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hemiplegia of nondominant side due to and following ischemic cerebrovascular accident (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hemiplegia of dominant side as sequela of ischaemic cerebrovascular accident |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hemiplegia of nondominant side due to and following embolic cerebrovascular accident (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Spastic hemiplegia of left dominant side (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Spastic hemiplegia of left nondominant side (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Spastic hemiplegia of right dominant side (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Spastic hemiplegia of right nondominant side (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
2-methyl-3-hydroxybutyric aciduria |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Infection causing abscess of central nervous system |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Infection of central nervous system caused by Echinococcus |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Infection causing granuloma of central nervous system (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Infection causing cyst of central nervous system |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Malformation of central nervous system of fetus (disorder) |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Malformation of central nervous system of fetus (disorder) |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Disorder of central nervous system co-occurrent and due to infection with influenza virus (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Demyelination due to systemic vasculitis (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Structure of glymphatic system |
Is a |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Intellectual disability, spasticity, ectrodactyly syndrome |
Finding site |
False |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Pilocytic astrocytoma (disorder) |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Oro-facial digital syndrome type 12 |
Finding site |
True |
Structure of central nervous system |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |