Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Necrospermia |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Globozoospermia |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Able to agree with care plan |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Electro-mechanical dissociation caused by cardiac pacemaker (finding) |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Cervix fully dilated |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Asthenozoospermia |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Low immunologic affinity |
Is a |
True |
Functional finding |
Inferred relationship |
Some |
|
Severe achondrolasia with developmental delay and acanthosis nigricans |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Increased metabolic requirement |
Is a |
True |
Functional finding |
Inferred relationship |
Some |
|
Blood pressure alteration |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Normal uterine contraction wave |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Difficulty achieving target heart rate |
Is a |
True |
Functional finding |
Inferred relationship |
Some |
|
Cervical dilatation, 4cm |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Cervical dilatation, 8cm |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia. |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Double pulse |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Difficulty agreeing with care plan (finding) |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Cervical dilatation, 2cm |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Unable to achieve target heart rate (finding) |
Is a |
True |
Functional finding |
Inferred relationship |
Some |
|
Abnormal host defense |
Is a |
True |
Functional finding |
Inferred relationship |
Some |
|
Impaired phagocytosis |
Is a |
True |
Functional finding |
Inferred relationship |
Some |
|
Defective biosynthesis |
Is a |
True |
Functional finding |
Inferred relationship |
Some |
|
Posterior movement of the base of the sacrum in relation to the ilia. |
Is a |
True |
Functional finding |
Inferred relationship |
Some |
|
Does achieve target heart rate |
Is a |
True |
Functional finding |
Inferred relationship |
Some |
|
X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterized by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behavior, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region. |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Cervical dilatation, 7cm |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Sleep hypoventilation (disorder) |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Finding of balance (finding) |
Is a |
True |
Functional finding |
Inferred relationship |
Some |
|
Oligozoospermia |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Finding of placental function |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Abnormal metabolic requirement |
Is a |
True |
Functional finding |
Inferred relationship |
Some |
|
Cervical dilatation, 1cm |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Able to achieve target heart rate (finding) |
Is a |
True |
Functional finding |
Inferred relationship |
Some |
|
Blood does not clot properly |
Is a |
True |
Functional finding |
Inferred relationship |
Some |
|
Extreme obesity with alveolar hypoventilation |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
à l'examen : sudation |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Gigantism |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Unable to agree with care plan (finding) |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Azoospermia |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Does not agree with care plan |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Does agree with care plan (finding) |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Spontaneous placental expulsion, Schultz mechanism |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Cervical dilatation, 6cm |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Cervical dilatation, 5cm |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Cervical dilatation, 3cm |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Rud's syndrome |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982. |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterized by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive. |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Autoimmune thrombocytopenia in pregnancy |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Psychogenic dysphonia |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets. |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Floating-Harbor syndrome |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Akinetic mutism |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Failed attempted abortion with defibrination syndrome (disorder) |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Failed attempted abortion with afibrinogenemia (disorder) |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Postpartum coagulation defects |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Miscarriage with defibrination syndrome |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterized by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15). |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Neonatal thrombocytopenia |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
A rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia. |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Miscarriage with afibrinogenemia (disorder) |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Thrombocytosis |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Disorder of fluency |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Antiphospholipid syndrome in pregnancy |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Psychogenic voice disorder |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Gardner-Diamond syndrome (disorder) |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Acquired dysphasia (disorder) |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
A rare, syndromic ichthyosis characterized by a collodion membrane at birth, generalized congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness, and occasionally mitral valve dysplasia. |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
A rare arthrogryposis syndrome characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993. |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Illegal abortion with defibrination syndrome |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Legal abortion with defibrination syndrome |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Legal abortion with afibrinogenemia |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Illegal abortion with afibrinogenemia |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Postpartum afibrinogenaemia with haemorrhage |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Endocrine system alteration |
Is a |
True |
Functional finding |
Inferred relationship |
Some |
|
Normal hormone production |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Absence of hormonal activity |
Is a |
True |
Functional finding |
Inferred relationship |
Some |
|
Normal hormone secretion |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Functional disorder |
Is a |
True |
Functional finding |
Inferred relationship |
Some |
|
Abnormal hormone production |
Is a |
True |
Functional finding |
Inferred relationship |
Some |
|
Increased hormonal activity |
Is a |
True |
Functional finding |
Inferred relationship |
Some |
|
Abnormal hormone secretion |
Is a |
True |
Functional finding |
Inferred relationship |
Some |
|
Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present. |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Normal hormonal activity |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Increased hormone secretion |
Is a |
True |
Functional finding |
Inferred relationship |
Some |
|
Increased hormone production |
Is a |
True |
Functional finding |
Inferred relationship |
Some |
|
Hypothermia of newborn |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Depressive symptoms due to primary psychotic disorder (disorder) |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Flat affect |
Is a |
True |
Functional finding |
Inferred relationship |
Some |
|
Finding related to ability to perform community living activities (finding) |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Incontinence of faeces |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Overeating |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Urinary incontinence (finding) |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Able to indicate own toileting needs (finding) |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Requires continuous supervision for activities of daily living |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Finding related to ability to perform domestic activities |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Instrumental activity of daily living (finding) |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3). |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Osteogenesis imperfecta type 5 (disorder) |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Induced termination of pregnancy complicated by defibrination syndrome (disorder) |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|
Induced termination of pregnancy complicated by afibrinogenemia (disorder) |
Is a |
False |
Functional finding |
Inferred relationship |
Some |
|