Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Pediatric trigger thumb of left hand |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Pediatric locking of interphalangeal joint of bilateral thumbs (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Pediatric locking of interphalangeal joint of bilateral thumbs (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Pediatric trigger thumb |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Fixed locking of interphalangeal joint of thumb in flexion thought to be caused by growth mismatch between flexor pollicis longus tendon and one or more flexor annular pulleys in young children. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Epilepsy with myoclonic absence presents with daily myoclonic absence seizures between 1 to 12 years of age. Other generalised seizure types which may be seen in this syndrome include generalised tonic-clonic seizures, clonic, atonic and typical absence seizures. Developmental impairment may be present at onset of epilepsy and may become more evident with age. The electroencephalogram shows regular three Hz generalised spike-and-wave pattern time-locked with myoclonic jerks, with a normal background. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Child on protection register |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Child on at risk register |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Child victim of psychological abuse |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Victim of emotional abuse during childhood (finding) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Chronic paediatric feeding disorder |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
A rare, potentially fatal, epileptic encephalopathy characterized by explosive-onset of recurrent multifocal and bilateral tonic-clonic seizures following an unspecific febrile illness. The syndrome develops without a clear acute structural, toxic or metabolic cause, in a patient without previous epilepsy. FIRES is a subgroup of new-onset refractory status epilepticus (NORSE) and requires a preceding febrile infection as a mandatory feature. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Pediatric feeding disorder |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Feeding problem in child |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Victim of human trafficking in childhood (finding) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
A type of epilepsy that presents with myoclonic-atonic seizures usually between 2 to 6 years of age. Other generalised seizure types which may be seen in this syndrome include atonic, myoclonic, generalised tonic-clonic seizures, tonic and absence seizures. Nonconvulsive status epilepticus is common. Development prior to seizure onset is normal in two thirds of cases. These children typically show developmental stagnation or even regression during the active seizures (stormy) phase, which improves once seizures are controlled. The electroencephalogram shows generalised 2 to 6 Hz spike-wave or polyspike-and-wave abnormalities, with normal background. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Acute pediatric feeding disorder (finding) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Child at risk of being neglected by others. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
3 |
Child at risk of being abused. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
3 |
Sexual exploitation is a form of sexual abuse. Sexual exploitation of children and young people under 18 involves exploitative situations, contexts and relationships where young people receive something for example drugs, alcohol, accommodation as a result of them performing or others performing on them, sexual activities. In sexual exploitation there is financial gain from abuse. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
3 |
At increased risk of impaired caregiver child attachment (finding) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
3 |
At increased risk of impaired child development |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
3 |
A child who is vulnerable or facing potential harm, neglect, or adverse circumstances that could negatively impact their well-being and development. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Secondary paediatric lymphoedema |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Polyarticular juvenile idiopathic arthritis |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Systemic onset juvenile idiopathic arthritis of left knee (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Systemic onset juvenile idiopathic arthritis of right knee |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Systemic onset juvenile idiopathic arthritis of bilateral knees |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
3 |
Systemic onset juvenile idiopathic arthritis of bilateral knees |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
4 |
Systemic onset juvenile idiopathic arthritis of knee (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Juvenile idiopathic generalised osteoporosis |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Acute constipation in childhood (finding) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Progressive sclerosing poliodystrophy |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Classical juvenile pityriasis rubra pilaris |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Circumscribed juvenile pityriasis rubra pilaris |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Atypical juvenile pityriasis rubra pilaris |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile pityriasis rubra pilaris (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Gender incongruence in childhood (finding) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Systemic onset juvenile idiopathic arthritis of left ankle |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Systemic onset juvenile idiopathic arthritis of right ankle (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Systemic onset juvenile idiopathic arthritis of ankle |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Systemic onset juvenile idiopathic arthritis of bilateral ankles |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Systemic onset juvenile idiopathic arthritis of bilateral ankles |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Systemic onset juvenile idiopathic arthritis of left foot |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Systemic onset juvenile idiopathic arthritis of foot (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Systemic onset juvenile idiopathic arthritis of right foot (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Systemic onset juvenile idiopathic arthritis of bilateral feet |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Systemic onset juvenile idiopathic arthritis of bilateral feet |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Systemic onset juvenile idiopathic arthritis of left hand (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Systemic onset juvenile idiopathic arthritis of right hand (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Systemic onset juvenile idiopathic arthritis of bilateral hands |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Systemic onset juvenile idiopathic arthritis of bilateral hands |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Systemic onset juvenile idiopathic arthritis of hand |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Systemic onset juvenile idiopathic arthritis of joint of left shoulder region (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Systemic onset juvenile idiopathic arthritis of joint of right shoulder region (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Systemic onset juvenile idiopathic arthritis of joint of bilateral shoulder regions (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Systemic onset juvenile idiopathic arthritis of joint of bilateral shoulder regions (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Systemic onset juvenile idiopathic arthritis of joint of shoulder region (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Systemic onset juvenile idiopathic arthritis of right hip (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Systemic onset juvenile idiopathic arthritis of hip |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Systemic onset juvenile idiopathic arthritis of left hip (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Systemic onset juvenile idiopathic arthritis of bilateral hips (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Systemic onset juvenile idiopathic arthritis of bilateral hips (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Juvenile idiopathic arthritis of bilateral ankles (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile idiopathic arthritis of bilateral ankles (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Juvenile idiopathic arthritis of left ankle (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile idiopathic arthritis of right ankle (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile idiopathic arthritis of ankle (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile idiopathic arthritis of bilateral elbows |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile idiopathic arthritis of bilateral elbows |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Juvenile idiopathic arthritis of elbow |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile idiopathic arthritis of left elbow (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile idiopathic arthritis of right elbow (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile idiopathic arthritis of bilateral hips |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile idiopathic arthritis of bilateral hips |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Juvenile idiopathic arthritis of hip |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile idiopathic arthritis of left hip (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile idiopathic arthritis of right hip (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile idiopathic arthritis of knee |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile idiopathic arthritis of left knee |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile idiopathic arthritis of right knee (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile idiopathic arthritis of bilateral knees (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile idiopathic arthritis of bilateral knees (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Juvenile idiopathic arthritis of joint of wrist region (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile idiopathic arthritis of joint of left wrist region (disorder) |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile idiopathic arthritis of joint of right wrist region |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile idiopathic arthritis of joint of bilateral wrist regions |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Juvenile idiopathic arthritis of joint of bilateral wrist regions |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
A rare neurologic disease with psychiatric involvement with characteristics of prominent pre-psychotic developmental disabilities (cognitive, language, motor), socio-communicative disturbances, auditory hallucinations (visual and tactile hallucinations are rarer) preceding psychotic symptoms, presenting before 13 years of age. Co-occurrence of neurodevelopmental disorders (e.g. autism spectrum disorders, attention deficit hyperactivity disorder) is frequent. Disease course is more severe than adult-onset form of the disease, with major neurodevelopmental impact. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
A rare non-severe combined immunodeficiency characterised by tumour necrosis factor-dependent chronic mucocutaneous ulcerations and inflammatory bowel disease presenting during the first years of life. Ulcerations occur primarily in the oral, gastrointestinal, and vaginal mucosa. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
A rare non-severe combined immunodeficiency characterised by tumour necrosis factor-dependent chronic mucocutaneous ulcerations and inflammatory bowel disease presenting during the first years of life. Ulcerations occur primarily in the oral, gastrointestinal, and vaginal mucosa. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
3 |
Monoarticular juvenile idiopathic arthritis |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
A rare genetic neurodegenerative disease with characteristics of childhood-onset severe developmental delay with regression, poor motor development, speech impairment and hypotonia due to CLCN6 mutations. Most of the patients have vision abnormalities, respiratory system abnormalities (including chronic respiratory insufficiency and tracheostomy that may lead to ventilator dependency) and feeding difficulties (percutaneous endoscopic gastronomy). Skin abnormalities including hyperhidrosis can be present. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
A rare autosomal dominant tubulointerstitial kidney disease (ADTKD) of childhood due to REN mutations and characterized by early onset hypoproliferative anemia, hyperuricemia, gout, and slowly progressive tubulointerstitial kidney disease. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
1 |
Childhood obesity due to genetic disease. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Childhood obesity resulting from the interaction of environmental factors and genetic susceptibilities. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Childhood onset obesity associated with a genetic syndrome. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
2 |
Pseudohypoparathyroidism type I A |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
4 |
Alstrom syndrome |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
7 |
Bardet-Biedl syndrome |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
5 |
A rare syndromic craniosynostosis with variable phenotypic expression characterized by craniosynostosis, intellectual disability, distinctive facies, abnormalities of the fingers and toes (brachydactyly, polydactyly and syndactyly), short stature, congenital heart disease, skeletal defects, obesity, genital abnormalities and umbilical hernia. |
Occurrence |
True |
Childhood |
Inferred relationship |
Some |
5 |