| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| 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 |
| rubéole avec complication neurologique |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| A rare tremor disorder characterized by an isolated high frequency (>12Hz) tremor that occurs when standing, typically in weight-bearing muscles, causing a feeling of unsteadiness or discomfort, which disappears when not standing. |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Chronic hiccup is a rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours. |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease. |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Insomnia due to periodic limb movement disorder (disorder) |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| An X-linked syndromic intellectual disability characterized by a few months of normal development, followed by progressive neurodegenerative course with gradual loss of vision, development of spastic tetraplegia, convulsions, microcephaly, failure to thrive, and early death. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| An X-linked syndromic intellectual disability characterized by congenital ataxia and generalized hypotonia, global developmental delay with intellectual disability, myoclonic encephalopathy, progressive neurological deterioration, macular degeneration, and recurrent bronchopulmonary infections. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Hypoglycemic coma due to type 2 diabetes mellitus |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
5 |
| A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. Muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure. |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Cerebroretinal vasculopathy |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| An investigation method used to detect unilateral hypofunction of the peripheral vestibular system caused mainly by acute vestibulopathy. The performer of the test sits face to face with the patient and holding the patient's head from the front. The patient is advised to fix their gaze on a target and the head is rapidly turned to one side and then to the other side while watching the eyes for the presence or absence of any corrective movements. |
Procedure site - Direct (attribute) |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
4 |
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
6 |
| Odontoleukodystrophy (disorder) |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| Neurodisability describes a group of congenital or acquired long-term conditions that are attributed to impairment of the brain and/or neuromuscular system and create functional limitations. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| A rare genetic disease characterized by bilateral Duane retraction syndrome type 3 (consisting of severe limitation of abduction, restriction of adduction, retraction of the globe, and narrowing of the palpebral fissure) and congenital myopathy manifesting as mild non-progressive hypotonia without muscular weakness, as well as delayed motor milestones, severe early-onset scoliosis, and short stature. Intelligence is normal. |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
|
| Radiation injury of nervous system following radiotherapy procedure |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Acquired vocal cord paralysis in newborn (disorder) |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
|
| Chorea due to heredodegenerative disorder |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Ataxia due to mitochondrial mutations |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Acquired ataxia |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Tremor due to metabolic disorder |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Tremor due to harmful pattern of substance use |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Secondary tic disorder (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Tic due to developmental disorder (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Segmental myoclonus (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Amyotrophic lateral sclerosis plus syndrome (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Post poliomyelitis syndrome |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Primary tic disorder (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Single seizure due to remote cause |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
|
| Single unprovoked seizure |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
|
| Minimally conscious state plus (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Minimally conscious state minus (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Alternating skew deviation (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| A rare developmental defect during embryogenesis characterized by macrostomia or abnormal mouth contour, preauricular tags or pits, and uni- or bilateral ptosis due to external ophthalmoplegia. This syndrome belongs to the oculoauriculovertebral spectrum, a developmental disorder affecting the structures derived from the first and second branchial arches. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| A rare, X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG. |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
6 |
| Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis, characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| A rare genetic disease characterized by the triad of adult-onset moderate to severe bilateral sensorineural hearing loss, premature graying of scalp hair, and essential tremor manifesting as involuntary shaking of the head. Additional pigmentation abnormalities have not been reported in this syndrome. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| A rare genetic neuromuscular disease characterized by early onset of proximal or generalized muscle weakness, external ophthalmoplegia with or without ptosis, and joint contractures. Hypotonia, neonatal respiratory distress necessitating ventilation, and severe dysphagia have also been reported. The disease is of variable severity and non- or slowly progressive. Patients typically remain ambulatory. Muscle biopsy may show predominance of type 1 fibers, marked variability in fiber size, increased internal nuclei, and proliferation of perimysial and endomysial connective tissue. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
4 |
| Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| A rare genetic neurological disease characterized by silvery hair, profound dysfunction of central nervous system, abnormal melanocytes and melanosomes and abnormal inclusion bodies in fibroblast and other cells. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| A rare disorder characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria. |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
6 |
| A rare lysosomal storage disease characterized clinically by severe global development delay due to neuronal dysmyelination, hypotonia which gradually progresses to spasticity during childhood, speech deficits, progressive visual impairment (due to corneal clouding, retinal degeneration and optic atrophy), achlorhydria, with increased gastrin secretion and iron deficiency anemia, and kidney disease and failure, all in the absence of dysmorphic features. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Neck pain co-occurrent with neurological deficit following whiplash injury to neck (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| A rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
5 |
| Neurological disorder due to nutrient deficiency (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Infection causing tic (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Tic due to and following infection (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Infection causing chorea (disorder) |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Chorea due to and following infective disorder (disorder) |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Neurological disorder caused by ingestible alcohol |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Ataxia co-occurrent and due to phytanic acid storage disease (disorder) |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
5 |
| Disorder of nervous system following procedure (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Functional monoparesis (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Functional paraparesis (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Seizure co-occurrent and due to hypnotic withdrawal (disorder) |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Seizure co-occurrent and due to anxiolytic withdrawal (disorder) |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by a specific facial appearance (consisting of a thickened, ridged, triangular skin fold extending from the glabella to the anterior fontanel, bilateral elevation of the medial portion of the eyebrows, hypertelorism, low-set ears, posteriorly rotated ears, and widow's peak), variable skeletal deformities, and neuromuscular and sensory defects, which can be incapacitating in some individuals. Reported features include limb muscle wasting, congenital kyphoscoliosis, hip dislocation, congenital talipes equinovarus, arthrogryposis, joint stiffness/ankyloses, ptosis, and cataracts. Intelligence is normal. There have been no further reports since 1992. |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
4 |
| COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Seizure co-occurrent and due to sedative withdrawal (disorder) |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood. |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spina bifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects. There have been no further descriptions in the literature since 1987. |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
11 |
| Neurological disorder due to excess intake of micronutrients (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Neurological disorder due to excess intake of macronutrients (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). Hypotonia, growth and developmental delay, seizures, and joint limitation are also reported. |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
5 |
| A rare leukodystrophy characterized by congenital thickened, wrinkled skin showing loss of elasticity, in combination with childhood onset of rapidly progressive generalized cognitive and motor impairment quickly resulting in a vegetative state and early death. Neuropathologic examination reveals neuroaxonal leukodystrophy with numerous neuroaxonal spheroids and diffuse loss of axons and myelin sheaths. |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Perceptual disturbances and seizures co-occurrent and due to sedative withdrawal (disorder) |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
4 |
| Perceptual disturbances and seizures co-occurrent and due to hypnotic withdrawal (disorder) |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
4 |
| Ocular tilt reaction (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a rare, genetic pigmentation anomaly of the skin disorder characterized by congenital hypomelanotic and hypermelanotic cutaneous macules associated with, in some patients, retarded growth and intellectual disability. There have been no further descriptions in the literature since 1978. |
Finding site |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
5 |
| Upward gaze deviation (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Divergence excess (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Synergistic divergence (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Hypomagnesemia with secondary hypocalcemia (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Flaccid monoplegia of upper limb (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Flaccid monoplegia of lower limb (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| Monoplegia of left dominant lower limb (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Monoplegia of left nondominant lower limb (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Monoplegia of right dominant lower limb (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Monoplegia of right nondominant lower limb (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Monoplegia of lower limb due to and following cerebrovascular accident (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
4 |
| Monoplegia of left nondominant upper limb due to and following cerebrovascular accident (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
4 |
| Monoplegia of right nondominant upper limb due to and following cerebrovascular accident (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
4 |
| Monoplegia of upper limb due to and following cerebrovascular accident (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
4 |
| Monoplegia of right upper limb (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Monoplegia of left upper limb (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Monoplegia of upper limb due to and following ischemic cerebrovascular accident (disorder) |
Finding site |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
4 |
| Neurological assessment |
Procedure site - Direct (attribute) |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Determination of existing sensory impairments (procedure) |
Procedure site - Direct (attribute) |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Neurovascular assessment |
Procedure site - Direct (attribute) |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
2 |
| Neurovascular assessment of upper limb |
Procedure site - Direct (attribute) |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Neurovascular assessment of lower limb |
Procedure site - Direct (attribute) |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Epilepsy assessment |
Procedure site - Direct (attribute) |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| Assessment of dementia |
Procedure site - Direct (attribute) |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| Assessment of raised intracranial pressure |
Procedure site - Direct (attribute) |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
| Assessment of psychotic and behavioural symptoms of dementia |
Procedure site - Direct (attribute) |
True |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
1 |
| Assessment of dizziness |
Procedure site - Direct (attribute) |
False |
Structure of nervous system (body structure) |
Inferred relationship |
Some |
3 |
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