Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Terra firma-forme dermatosis (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Birth weight abnormality |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Exceptionally large at birth (disorder) |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Heavy-for-dates at birth regardless of gestation period |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Small-for-dates baby |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Low birth weight infant |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Very low birth weight infant |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Extremely low birth weight infant (disorder) |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
High birth weight |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Subjective visual disturbance of image size (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Macropsia due to organic disease |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Micropsia (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Micropsia due to organic disease (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Macropsia (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Oral choreiform movement |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Choreoacanthocytosis |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Dentatorubropallidoluysian degeneration |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Henoch's chorea |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Wilson's disease |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Pallidonigrospinal degeneration |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Rheumatic chorea with heart involvement |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Huntington's chorea |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Pallidonigral degeneration |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Dubini's chorea |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Pallidopontonigral degeneration |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Juvenile paralysis agitans of Hunt (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Birnbaum's syndrome (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Rheumatic chorea |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Pallidoluysian degeneration |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Pigmentary pallidal degeneration |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Fahr's syndrome |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Rheumatic chorea without heart involvement |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Juvenile onset Huntington's disease |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Late onset Huntington's disease (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Akinetic-rigid form of Huntington's disease |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Pallidal degeneration |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Benign hereditary chorea |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Chorea due to systemic lupus erythematosus (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Chorea due to thyrotoxicosis (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Kinesiogenic choreoathetosis |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Chorea (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Toxic chorea (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Huntington disease-like syndrome |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Huntington disease-like 3 |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Dissociative neurological symptom disorder co-occurrent with chorea |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Infection causing chorea |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Chorea due to and following infective disorder (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Chorea co-occurrent and due to Huntington disease-like condition (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Chorea co-occurrent and due to dentatorubropallidoluysian degeneration |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A rare genetic human prion disease characterised by adult-onset neurodegenerative manifestations associated with a movement disorder and psychiatric/behavioural disturbances. Patients typically present personality changes, aggressiveness, manias, anxiety and/or depression in conjunction with rapidly progressive cognitive decline (presenting with dysarthria, apraxia, aphasia and eventually leading to dementia) as well as ataxia (manifesting with gait disturbances, unsteadiness, coordination problems), Parkinsonism, myoclonus, and/or chorea. Additional features may include generalised spasticity, seizures, urine incontinence and pyramidal abnormalities. There is evidence the disease is caused by 8 extra octapeptide repeats in the PRNP gene on chromosome 20p13. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Chorea due to and following encephalitis |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Childhood-onset benign chorea with striatal involvement |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Classical pantothenate kinase associated neurodegeneration (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Atypical pantothenate kinase associated neurodegeneration (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Chorea due to polycythemia rubra vera |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to Lesch-Nyhan syndrome (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to paraneoplastic syndrome |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to antiphospholipid syndrome (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to ataxia telangiectasia syndrome (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to hyperglycaemia |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to hereditary ataxia (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to Huntington disease-like 3 (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to neuroferritinopathy |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to mitochondrial cytopathy |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to classical pantothenate kinase associated neurodegeneration (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Chorea due to endocrine disorder |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to chronic hepatocerebral degeneration |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to anoxia of brain (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to and following ventriculoperitoneal shunt (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Chorea due to hyponatremia (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to hypoparathyroidism (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to widespread metastatic malignant neoplastic disease (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to and following injury of head |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to immunological disorder (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to inborn error of metabolism (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to metabolic disorder |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea caused by oral contraceptive (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Chorea due to inherited aminoaciduria (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to prion disease (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to tardive dyskinesia |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to cerebral injury due to birth trauma |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to inherited organic acidaemia |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea caused by dopamine receptor antagonist (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Fahr's syndrome |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Basal ganglia degeneration with calcification (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Aicardi Goutieres syndrome (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Autosomal dominant late onset basal ganglia degeneration (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Aicardi Goutieres syndrome type 1 (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Aicardi Goutieres syndrome type 2 (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Aicardi Goutieres syndrome type 3 (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Aicardi Goutieres syndrome type 4 |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Aicardi Goutieres syndrome type 5 (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Drug-induced chorea (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Chorea due to heredodegenerative disorder |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Adenovirus infection in immunocompromised person (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Myeloid hyperplasia of bone marrow (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Abnormal desquamation of epithelium (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Abnormal desquamation of mucous membrane (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Afibrinogenemia following molar pregnancy (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Afibrinogenemia following ectopic pregnancy (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |