Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Encopresis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Functional encopresis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Secondary organic encopresis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Primary organic encopresis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Encopresis with constipation AND overflow incontinence |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Maternally inherited mitochondrial dystonia (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acute infection caused by Paracoccidioides brasiliensis in childhood (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Juvenile psoriatic arthritis with psoriasis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Juvenile psoriatic arthritis with psoriasis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Systemic onset juvenile chronic arthritis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Juvenile idiopathic arthritis (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Persistent onset antinuclear antibody positive juvenile idiopathic oligoarthritis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Extended oligoarticular onset antinuclear antibody negative juvenile idiopathic arthritis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Persistent onset antinuclear antibody negative juvenile idiopathic oligoarthritis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Extended oligoarticular onset antinuclear antibody positive juvenile idiopathic arthritis (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Juvenile idiopathic arthritis, oligoarthritis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Juvenile idiopathic arthritis, persistent oligoarthritis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Juvenile idiopathic arthritis, extended oligoarthritis (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Juvenile idiopathic arthritis, undifferentiated arthritis (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Polyarticular juvenile idiopathic arthritis |
Occurrence |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Juvenile seronegative polyarthritis (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Acute polyarticular juvenile idiopathic arthritis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Juvenile idiopathic arthritis, enthesitis related arthritis (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Juvenile idiopathic arthritis, enthesitis related arthritis (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Juvenile seropositive polyarthritis (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Rheumatoid factor negative and anti-citrullinated protein antibody positive juvenile polyarthritis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Rheumatoid factor negative and anti-citrullinated protein antibody negative juvenile polyarthritis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Rheumatoid factor positive and anti-citrullinated protein antibody positive juvenile polyarthritis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Rheumatoid factor positive and anti-citrullinated protein antibody negative juvenile polyarthritis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Juvenile psoriatic arthritis (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Juvenile arthritis in ulcerative colitis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Juvenile arthritis in Crohn's disease |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Juvenile spondyloarthropathy |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Juvenile reactive arthritis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Late onset polyarticular juvenile chronic arthritis (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Childhood-onset basal ganglia degeneration syndrome |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Childhood-onset benign chorea with striatal involvement |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Juvenile hemochromatosis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
LIMS2-related limb girdle muscular dystrophy |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Prepubertal anorexia nervosa |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Paediatric multiple sclerosis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Paediatric multiple sclerosis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Type 2A juvenile hereditary hemochromatosis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Type 2B juvenile hereditary hemochromatosis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive intermediate Charcot-Marie-Tooth disease type D (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Childhood-onset nemaline myopathy |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Pediatric arterial ischemic stroke (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Pediatric arterial ischemic stroke (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Functional abdominal pain of childhood |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Functional vomiting in childhood (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Functional disorder of gastrointestinal tract in childhood |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Functional aerophagy in childhood |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Paediatric hepatocellular carcinoma |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A benign epithelial ovarian tumor characterized by a usually unilateral, cystic, unilocular or multilocular lesion with a thin wall or septa and no intracystic solid portion on imaging. It often presents with abdominal pain or an asymptomatic abdominal mass and can be associated with ovarian torsion or malignant transformation. |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Pediatric collagenous gastritis (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Early-onset calcifying leucoencephalopathy, skeletal dysplasia |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Familial multiple discoid fibroma |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Pyogenic arthritis, pyoderma gangrenosum, acne syndrome (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Urticaria multiforme |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Physiological development failure |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Child developmental finding (finding) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Delay in physiological development (finding) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Childhood |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Childhood chronic lichenified atopic dermatitis (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Childhood chronic lichenified atopic dermatitis (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Childhood pruriginous atopic dermatitis (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Childhood pruriginous atopic dermatitis (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Childhood impetiginised atopic dermatitis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Childhood nummular atopic eczematous dermatitis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Childhood generalised erythematous atopic dermatitis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Childhood generalised erythematous atopic dermatitis |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Childhood flexural atopic dermatitis (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Childhood atopic dermatitis (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Juvenile pityriasis rubra pilaris |
Occurrence |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Classical juvenile pityriasis rubra pilaris |
Occurrence |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Circumscribed juvenile pityriasis rubra pilaris |
Occurrence |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Atypical juvenile pityriasis rubra pilaris |
Occurrence |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Macular oedema due to juvenile central retinal vein occlusion |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Neovascularization of eye due to juvenile central retinal vein occlusion |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Child at increased risk for overweight body mass index greater than 85 percentile (finding) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Alexander disease juvenile form |
Occurrence |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Alexander disease juvenile form |
Occurrence |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Alexander disease juvenile form |
Occurrence |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Primary infantile fibrosarcoma |
Occurrence |
False |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Genetic non-syndromic obesity |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital leptin deficiency |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Obesity due to CEP19 deficiency |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A rare genetic form of obesity with characteristics of severe early-onset obesity, hyperphagia and variable presence of cognitive impairment and behavioural disorder, including autistic spectrum behaviour, impaired concentration and memory deficit. Some patients present with Prader-Willi-like features such as hypotonia, developmental delay, intellectual disability, short stature, hypopituitarism and dysmorphic facial features. |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A rare, idiopathic nephrotic syndrome characterised by paediatric onset of proteinuria, hypoalbuminaemia and oedema. Patients respond successfully to the initial standard course of corticosteroids but are resistant to standard therapy for a subsequent relapse and following this relapse remain steroid-resistant. |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare, idiopathic nephrotic syndrome characterised by paediatric onset of proteinuria, hypoalbuminaemia and oedema. Patients respond successfully to the initial standard course of corticosteroids but are resistant to standard therapy for a subsequent relapse and following this relapse remain steroid-resistant. |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A rare genetic disease characterized by childhood onset of multiple endocrine manifestations in combination with central and peripheral nervous system abnormalities. Reported signs and symptoms include postnatal growth retardation, moderate intellectual disability, hypogonadotropic hypogonadism, insulin-dependent diabetes mellitus, central hypothyroidism, demyelinating sensorimotor polyneuropathy, and cerebellar and pyramidal signs. Progressive hearing loss and a hypoplastic pituitary gland have also been described. Brain imaging shows moderate white matter abnormalities. |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare genetic disease characterized by childhood onset of multiple endocrine manifestations in combination with central and peripheral nervous system abnormalities. Reported signs and symptoms include postnatal growth retardation, moderate intellectual disability, hypogonadotropic hypogonadism, insulin-dependent diabetes mellitus, central hypothyroidism, demyelinating sensorimotor polyneuropathy, and cerebellar and pyramidal signs. Progressive hearing loss and a hypoplastic pituitary gland have also been described. Brain imaging shows moderate white matter abnormalities. |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A rare genetic disease characterized by childhood onset of multiple endocrine manifestations in combination with central and peripheral nervous system abnormalities. Reported signs and symptoms include postnatal growth retardation, moderate intellectual disability, hypogonadotropic hypogonadism, insulin-dependent diabetes mellitus, central hypothyroidism, demyelinating sensorimotor polyneuropathy, and cerebellar and pyramidal signs. Progressive hearing loss and a hypoplastic pituitary gland have also been described. Brain imaging shows moderate white matter abnormalities. |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Best vitelliform macular dystrophy (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Best vitelliform macular dystrophy (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Paediatric trigger thumb of right hand |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Pediatric trigger thumb of left hand |
Occurrence |
True |
Childhood |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |