Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Posterior fossa brain malformation, hemangioma, arterial anomaly, cardiac defect and aortic coarctation, and eye abnormality syndrome (disorder) |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
Seckel syndrome |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
4 |
Sacral spina bifida without hydrocephalus - closed |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
Subependymal nodular heterotopia (disorder) |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
Neurocutaneous syndrome |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
Sacral spina bifida without hydrocephalus - open |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
Vascular neurocutaneous syndrome |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
Thoracic spina bifida with hydrocephalus - open |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
6 |
Hemimyelocele |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
4 |
Spina bifida of lumbar region |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
Fissured spine |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
4 |
Lumbar spina bifida without hydrocephalus - closed |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
Neuronal heterotopia |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
Acrania |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
4 |
Hereditary neurocutaneous angiomata (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
Lumbar myelocystocele |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
X-linked periventricular heterotopia (disorder) |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
Lumbar spina bifida without hydrocephalus - open |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
Fissured spine with hydrocephalus |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
6 |
Cervical spina bifida with hydrocephalus |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
Pulmonary hypertension in neurofibromatosis (disorder) |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
Tuberous sclerosis syndrome |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
Cervical spina bifida with hydrocephalus - closed |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
4 |
A rare closed neural tube defect characterized by cystic dilatation of the central canal of the spinal cord, herniating through a posterior vertebral arch defect (spina bifida) into an expanded cerebrospinal fluid (CSF) filled dural sac (meningocele). It can be located at the caudal part of the spinal cord (terminal myelocystocele) or above conus (non-terminal myelocystocele). |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
4 |
Spina bifida of sacral region (disorder) |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
Thoracic spina bifida with hydrocephalus |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
5 |
Neurofibromatosis type 1 |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
Spina bifida aperta of thoracic spine (disorder) |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
4 |
Spina bifida aperta of cervical spine (disorder) |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
5 |
Laminar heterotopia |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
Thoracic spina bifida with hydrocephalus - closed |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
5 |
Nodular heterotopia |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
Pulmonary tuberous sclerosis (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
Sacral spina bifida with hydrocephalus - closed |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
4 |
Axillary freckling due to neurofibromatosis (disorder) |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
Peutz-Jeghers syndrome |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
4 |
Peutz-Jeghers polyps of small bowel |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
4 |
A neural tube defect with characteristics of improper closure of the spinal column during embryonal development. In the case of spina bifida occulta the site of the lesion is not exposed, there is a midline defect of the vertebral bodies without protrusion of the spinal cord or meninges. |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
Spina bifida without hydrocephalus |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
Spina bifida |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
Spina bifida without hydrocephalus - open |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
Spina bifida without hydrocephalus - closed |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
Thoracolumbar spina bifida without hydrocephalus - closed |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
Sturge-Weber syndrome |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
5 |
Thoracic spina bifida without hydrocephalus - open |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
4 |
Thoracic spina bifida without hydrocephalus - closed |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
4 |
Spina bifida of dorsal region (disorder) |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
4 |
Thoracic myelocystocele |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
4 |
Congenital athetosis |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
Single seizure |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
|
On examination - grand mal fit |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
|
convulsion secondaire généralisée |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
|
Phakomatosis cesioflammea |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
Phakomatosis spilorosea |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
Phakomatosis caesiomarmorata |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
Neuronal ceroid lipofuscinosis 8 |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
Congenital hypertonia |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
De Lange syndrome |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
Cerebro-oculo-facio-skeletal syndrome |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
Noncompliant neuropathic urinary bladder (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
Reflex neuropathic urinary bladder (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
Somatosensory evoked potential study |
Procedure site - Direct (attribute) |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
Intraoperative electromyography (procedure) |
Procedure site - Direct (attribute) |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
Intraoperative somatosensory evoked potential study (procedure) |
Procedure site - Direct (attribute) |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
Minimally conscious state (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
Bacterial infection of the nervous system |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
Hypomagnesemia with secondary hypocalcemia (disorder) |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
|
Mitochondrial membrane protein associated neurodegeneration (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
Spinal muscular atrophy with respiratory distress type 1 |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
RNA polymerase III-related leukodystrophy |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
Ecchordosis physaliphora |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
neuronite infectieuse |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
Hyperosmolar coma due to secondary diabetes mellitus |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
|
Human immunodeficiency virus infection with neurological disease |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
Slow viral central nervous system infection |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
Infectious disease of nervous system |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
Infectious disorder of the peripheral nervous system |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
Amyotrophy caused by herpes zoster |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
Bannwarth syndrome (disorder) |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
Disorder of nervous system caused by West Nile virus |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
Localised tetanus |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
Obstetrical tetanus |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
tétanos compliquant une grossesse molaire et/ou extra-utérine |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
Tetanus |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
Generalised tetanus |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
Induced termination of pregnancy complicated by tetanus |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
Tetanus with trismus |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
Puerperal tetanus |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
Tetanus omphalitis |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
Tetanic opisthotonus (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
Tetanus omphalitis |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
Tetanus neonatorum (disorder) |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
Chagas' disease with nervous system involvement |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
5 |
Neurologic disorder due to degeneration of lumbar intervertebral disc |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
Foot vibration sensation test using vibrometer (procedure) |
Procedure site - Direct (attribute) |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
Foot vibration sensation test using tuning fork |
Procedure site - Direct (attribute) |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies. |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
Primary progressive freezing gait syndrome (disorder) |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when café-au-lait spots are present in patients diagnosed with NS). |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
4 |