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 |
Functional observable |
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 |
Functional observable |
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 |
Functional observable |
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 |
Functional observable |
Inferred relationship |
Some |
|
Cognitive deficit in communication skills (finding) |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Dysphagia due to and following non-traumatic intracerebral hemorrhage (disorder) |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Dysphagia due to and following non-traumatic subarachnoid hemorrhage (disorder) |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Difficulty swallowing pills (finding) |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Acquired generalized early ejaculation (finding) |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Acquired situational early ejaculation (finding) |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Lifelong generalized delayed ejaculation (finding) |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Lifelong situational delayed ejaculation (finding) |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Acquired generalized delayed ejaculation (finding) |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Dissociative neurological symptom disorder with swallowing symptom (disorder) |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Acquired situational anorgasmia (disorder) |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Lifelong generalized anorgasmia (disorder) |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Lifelong situational anorgasmia (disorder) |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Lifelong generalized early ejaculation (finding) |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Lifelong situational early ejaculation (finding) |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Acquired situational delayed ejaculation (finding) |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Acquired generalized anorgasmia (disorder) |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Dependence on biphasic positive airway pressure ventilation due to central sleep apnoea syndrome |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Modified diet is an alteration to the consistency of foods and liquids for the management of dysphagia. |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Chelsea Critical Care Physical Assessment tool score (observable entity) |
Is a |
False |
Functional observable |
Inferred relationship |
Some |
|
Postural Assessment Scale for Stroke Patients score (observable entity) |
Is a |
False |
Functional observable |
Inferred relationship |
Some |
|
Mild acquired hearing loss |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Moderate acquired hearing loss |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Severe acquired hearing loss |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Profound acquired hearing loss (disorder) |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Congenital conductive hearing loss |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Congenital mixed conductive and sensorineural hearing loss |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Retinitis pigmentosa-deafness syndrome |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Retinitis pigmentosa-deafness-ataxia syndrome |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Usher syndrome type 1 |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Usher syndrome type 2 |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
WISC FSIQ (Wechsler Intelligence Scale for Children Full Scale Intelligence Quotient) score |
Is a |
False |
Functional observable |
Inferred relationship |
Some |
|
KPS (Karnofsky Performance Status) score |
Is a |
False |
Functional observable |
Inferred relationship |
Some |
|
Developmental language disorder and impairment of mainly pragmatic language |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Sexual dysfunction caused by stimulant (disorder) |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Developmental language disorder co-occurrent with language impairment (disorder) |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Sexual dysfunction caused by synthetic cathinone (disorder) |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Uses contraception |
Interprets |
False |
Functional observable |
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 |
Functional observable |
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 |
Functional observable |
Inferred relationship |
Some |
|
Loewenstein Occupational Therapy Cognitive Assessment score (observable entity) |
Is a |
False |
Functional observable |
Inferred relationship |
Some |
|
Elderly Mobility Scale score (observable entity) |
Is a |
False |
Functional observable |
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 |
Functional observable |
Inferred relationship |
Some |
|
Postlingual non-syndromic genetic deafness |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Prelingual non-syndromic genetic deafness (disorder) |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Pedophilia, opposite sex |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Symptomatic pedophilia |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Pedophilia, exclusive type |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Pederasty |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Pedophilia, same AND opposite sex |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Pedophilia, nonexclusive type |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Pedophilia, same sex |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Compulsive pedophilia |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Pedophilia, limited to incest |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Pedophilia |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Pedophilia targeting children of female sex (disorder) |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Paedophilia targeting children of male sex |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Total visual and total hearing impairment (disorder) |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Voyeurism |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Sexual masochism |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Sexual arousal by exposure of genitals to non-consenting postpubertal person |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Telephone scatologia |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Flagellantism |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Urophilia |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Sexual arousal by exposure of genitals to non-consenting prepubertal person |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Coercive sexual sadism (disorder) |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Partialism |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Sexual arousal by exposure of genitals to non-consenting person |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Sexual sadism |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Paraphilia |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Exhibitionism |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Symptomatic sexual sadism |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Coprophilia |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Compulsive sexual masochism |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Symptomatic fetishism |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Symptomatic sexual masochism |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Necrosadism |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Ecouteurism |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Asphyxiophilia (disorder) |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Fetishism |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Paraphilia involving non-consenting individual (disorder) |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Paraphilia involving solitary behavior or consenting individuals (disorder) |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Necrophilia |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Sexually attracted to male sex (finding) |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Pygmalionism |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Sexually attracted to male and female sex (finding) |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Erotic zoophilia |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Erotic vomiting |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Sexually attracted to female sex (finding) |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Bestiality |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Symptomatic exhibitionism |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
True compulsive fetishism |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Flashing |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Fetishistic transvestism |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Sexually attracted to neither male nor female sex (finding) |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Compulsive sexual sadism |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|
Sexual relationship problem due to gender identity confusion (finding) |
Interprets |
False |
Functional observable |
Inferred relationship |
Some |
|