Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterized by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive. |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
A rare neurologic disease characterized by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities, including progressive loss of gastric motility and small bowel diverticulosis and ulcerations, resulting in cachexia. Additional neurological manifestations may include dysarthria and absent tendon reflexes, as well as ptosis and external ophthalmoplegia. There have been no further descriptions in the literature since 1985. |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988. |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Cognitive deficit in communication skills (finding) |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Dysphagia due to and following non-traumatic intracerebral hemorrhage (disorder) |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Dysphagia due to and following non-traumatic subarachnoid hemorrhage (disorder) |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Difficulty swallowing pills (finding) |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Acquired generalized early ejaculation (finding) |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Acquired situational early ejaculation (finding) |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Lifelong generalized delayed ejaculation (finding) |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Lifelong situational delayed ejaculation (finding) |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Acquired generalized delayed ejaculation (finding) |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Dissociative neurological symptom disorder with swallowing symptom (disorder) |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Acquired situational anorgasmia (disorder) |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Lifelong generalized anorgasmia (disorder) |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Lifelong situational anorgasmia (disorder) |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Lifelong generalized early ejaculation (finding) |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Lifelong situational early ejaculation (finding) |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Acquired situational delayed ejaculation (finding) |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Acquired generalized anorgasmia (disorder) |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Dependence on biphasic positive airway pressure ventilation due to central sleep apnoea syndrome |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Modified diet is an alteration to the consistency of foods and liquids for the management of dysphagia. |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Chelsea Critical Care Physical Assessment tool score (observable entity) |
Is a |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Postural Assessment Scale for Stroke Patients score (observable entity) |
Is a |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Mild acquired hearing loss |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Moderate acquired hearing loss |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Severe acquired hearing loss |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Profound acquired hearing loss (disorder) |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Congenital conductive hearing loss |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Congenital mixed conductive and sensorineural hearing loss |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Retinitis pigmentosa-deafness syndrome |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Retinitis pigmentosa-deafness-ataxia syndrome |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Usher syndrome type 1 |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Usher syndrome type 2 |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
WISC FSIQ (Wechsler Intelligence Scale for Children Full Scale Intelligence Quotient) score |
Is a |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
KPS (Karnofsky Performance Status) score |
Is a |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Developmental language disorder and impairment of mainly pragmatic language |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Sexual dysfunction caused by stimulant (disorder) |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Developmental language disorder co-occurrent with language impairment (disorder) |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Sexual dysfunction caused by synthetic cathinone (disorder) |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
utilise la contraception |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome is a rare demyelinating hereditary motor and sensory neuropathy characterised by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large, myelinated fibres on sural nerve biopsy is equally characteristic of the disease. |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Dysmorphism-conductive hearing loss-heart defect syndrome is a rare, multiple congenital anomalies syndrome characterized by a distinctive facial appearance (low frontal hairline, bilateral ptosis, prominent eyes, flat midface, broad, flat nares, Cupid bow upper lip vermilion, and small, low-set, posteriorly rotated ears), in addition to cleft palate, conductive hearing loss, heart defects (atrial or ventricular septal defect) and mild developmental delay/intellectual disability. |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Loewenstein Occupational Therapy Cognitive Assessment score (observable entity) |
Is a |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Elderly Mobility Scale score (observable entity) |
Is a |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis. |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Postlingual non-syndromic genetic deafness |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Prelingual non-syndromic genetic deafness (disorder) |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Pedophilia, opposite sex |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Symptomatic pedophilia |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Pedophilia, exclusive type |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Pederasty |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Pedophilia, same AND opposite sex |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Pedophilia, nonexclusive type |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Pedophilia, same sex |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Compulsive pedophilia |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Pedophilia, limited to incest |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Pedophilia |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Pedophilia targeting children of female sex (disorder) |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Paedophilia targeting children of male sex |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Total visual and total hearing impairment (disorder) |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Voyeurism |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Sexual masochism |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Sexual arousal by exposure of genitals to non-consenting postpubertal person |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Telephone scatologia |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Flagellantism |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Urophilia |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Sexual arousal by exposure of genitals to non-consenting prepubertal person |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Coercive sexual sadism (disorder) |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Partialism |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Sexual arousal by exposure of genitals to non-consenting person |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Sexual sadism |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Paraphilia |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Exhibitionism |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Symptomatic sexual sadism |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Coprophilia |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Compulsive sexual masochism |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Symptomatic fetishism |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Symptomatic sexual masochism |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Necrosadism |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Ecouteurism |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Asphyxiophilia (disorder) |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Fetishism |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Paraphilia involving non-consenting individual (disorder) |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Paraphilia involving solitary behavior or consenting individuals (disorder) |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Necrophilia |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Sexually attracted to male sex (finding) |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Pygmalionism |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Sexually attracted to male and female sex (finding) |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Erotic zoophilia |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Erotic vomiting |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Sexually attracted to female sex (finding) |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Bestiality |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Symptomatic exhibitionism |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
True compulsive fetishism |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Flashing |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Fetishistic transvestism |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Sexually attracted to neither male nor female sex (finding) |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Compulsive sexual sadism |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|
Sexual relationship problem due to gender identity confusion (finding) |
Interprets |
False |
entité observable fonctionnelle |
Inferred relationship |
Some |
|