Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
No cough strength |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
A rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness. |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
Vagus nerve laryngeal paralysis |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983. |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
A rare, syndromic intellectual disability characterized by hypotonia, developmental delay, absent or severly delayed speech development, intellectual disability, obstructive sleep apnea, mild dysmorphic facial features and behavioral abnormalities. Epilepsy, ataxia and nystagmus have also been reported. |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
3 |
A rare genetic neuromuscular channelopathy characterized by normokalemic episodes of painful muscle cramping followed by progressive, permanent, flaccid weakness, triggered by stress, cold and exercise, associated with myopathic myopathy and painful acute edema with neuronal compression, foot drop and muscle degeneration when located in the tibialis anterior muscle group. |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
Periodic paralysis with later-onset distal motor neuropathy is a rare, genetic, neuromuscular disease characterized by acute episodic muscle weakness in upper and lower extremities (which responds to acetazolamide treatment) associated with later-onset, chronic, slowly progressive, distal, axonal neuropathy. |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
Primary amenorrhoea |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
Secondary amenorrhea |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
Postpill amenorrhea |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
A rare peripheral neuropathy characterized by an acute onset of unilateral facial muscle weakness with Bell's phenomenon. It is non-progressive, resolves spontaneously, and it might be recurrent with no obvious precipitating factors. |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
Nerve palsy |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
Joint movement absent |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
Active range of joint movement absent |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
Passive range of joint movement absent |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
No active range of knee extension |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
No passive range of knee extension |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
No passive range of knee internal rotation (finding) |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
No passive range of knee external rotation |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
No active range of knee flexion |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
No passive range of knee flexion |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
A form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy. |
Has interpretation |
False |
Absent |
Inferred relationship |
Some |
2 |
Complete paralysis of left vocal cord |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
Complete paralysis of right vocal cord |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
A rare, multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity. |
Has interpretation |
False |
Absent |
Inferred relationship |
Some |
4 |
A rare endocrine disease characterized by a miniature adult type of congenital adrenal hypoplasia (residual adrenal cortex is composed of a small amount of permanent adult cortex with normal structural organization), selective absence of pituitary luteinizing hormone in otherwise normal brain, and neonatal demise. Patients present with hypogonadotropic hypogonadism, hypoglycemia, seizures, encephalopathy and diabetes insipidus. There have been no further descriptions in the literature since 1988. |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
4 |
Congenital anosmia |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
2 |
plainte : anosmie |
Has interpretation |
False |
Absent |
Inferred relationship |
Some |
2 |
Apnea - anesthetic |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
2 |
Lacks lumbar extension |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
No active range of thumb flexion (finding) |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
No passive range of thumb flexion |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
No active range of thumb extension |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
No passive range of thumb extension |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
No active range of thumb abduction |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
No passive range of thumb abduction |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
No active range of thumb adduction |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
No passive range of thumb adduction |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
No active range of thumb opposition |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
No passive range of thumb opposition |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
No active range of midtarsal pronation |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
No passive range of midtarsal pronation (finding) |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
No active range of midtarsal supination |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
No passive range of midtarsal supination |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
No passive inversion of subtalar joint |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
No active inversion of subtalar joint |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
No passive eversion of subtalar joint |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
No active eversion of subtalar joint |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
Toe joint rigid |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
No thumb movement |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
No subtalar movement |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
Traumatic anosmia |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
2 |
Loss of sense of smell |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
Kallmann syndrome with cardiopathy is characterized by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome. |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
4 |
Mixed neonatal apnoea |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
3 |
Isolated arhinencephaly is a rare non-syndromic central nervous system malformation defined by the agenesis of the olfactory bulbs and tracts and characterized by complete congenital anosmia. |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
3 |
Hypogonadism with anosmia |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
5 |
Primary central sleep apnoea of prematurity |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
2 |
Absence of pulse in left femoral artery (finding) |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
Absence of pulse in right femoral artery (finding) |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
Pulse in left popliteal artery absent |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
Pulse in right popliteal artery absent |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
Absence of pulse in left anterior tibial artery (finding) |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
Absence of pulse in right anterior tibial artery (finding) |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
Absence of pulse in right posterior tibial artery (finding) |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
Absence of pulse in left posterior tibial artery (finding) |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
Muscle paralysis due to and following neuromuscular blockade (disorder) |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
Palsy of vagus nerve (disorder) |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
Palsy of accessory nerve (disorder) |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
Palsy of glossopharyngeal nerve |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
Palsy of upper motor nerve |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
à l'examen : paralysie du motoneurone supérieur d'un nerf crânien |
Has interpretation |
False |
Absent |
Inferred relationship |
Some |
1 |
Mass of abdomen still during respiration (finding) |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
2 |
Pulse in left dorsalis pedis artery absent |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
Absence of pulse in right dorsalis pedis artery (finding) |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
On examination - right dorsalis pedis pulse absent |
Has interpretation |
False |
Absent |
Inferred relationship |
Some |
4 |
On examination - left dorsalis pedis absent |
Has interpretation |
False |
Absent |
Inferred relationship |
Some |
4 |
Mass does not move with respiration |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
2 |
à l'examen : masse abdominale ne bougeant pas à la respiration |
Has interpretation |
False |
Absent |
Inferred relationship |
Some |
1 |
Absence of vibration sense of right foot |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
Absence of vibration sense of left foot |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
Absence of deep sensation (finding) |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
Suprapatellar jerk absent (finding) |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
Consensual pupillary reflex absent (finding) |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
Anuria following procedure |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
3 |
Anuria |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
2 |
Anesthesia in bilateral lower limbs |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
Absence of pulse in right foot |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
Absence of pulse in left foot (finding) |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
Absence of sensation due to conversion disorder |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
Crutch paralysis |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
2 |
bébé ne bougeant pas |
Has interpretation |
False |
Absent |
Inferred relationship |
Some |
1 |
Traumatic anuria - crush syndrome |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
3 |
Traumatic anuria |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
Absence of sensation on left side of face (finding) |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
Absence of sensation on left side of trunk |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
Absence of sensation on right side of face (finding) |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
Absence of sensation on right side of trunk |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
1 |
Anhidrosis |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
2 |
Tropical anhidrotic asthenia |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
2 |
Chronic idiopathic anhidrosis |
Has interpretation |
True |
Absent |
Inferred relationship |
Some |
3 |