Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Sandman-Andra syndrome |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
4 |
Hypohidrosis with neurolabyrinthitis |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
4 |
Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Congenital discoid meniscus of knee (disorder) |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
2 |
Fetal postural deformity |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Locking of joint |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Transient locking of joint |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Total locking of joint |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Pseudo-locking of joint |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Congenital dysmotility of small intestine (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Ectodermal dysplasia with hair-tooth-nail-sweating defect |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
5 |
Ectodermal dysplasia with tooth-sweating defect |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
4 |
Ectodermal dysplasia with sweating defect (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Generalized congenital intestinal dysmotility (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Marshall syndrome |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
4 |
Old tear of posterior horn of medial meniscus |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
2 |
Degeneration of lateral meniscus |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
2 |
Temporomandibular joint locking |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Intermenstrual heavy bleeding |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Derangement of anterior horn of lateral meniscus due to injury of knee (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Derangement of anterior horn of medial meniscus due to injury of knee |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Derangement of lateral meniscus due to injury of knee |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Derangement of medial meniscus due to injury of knee (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Derangement of posterior horn of lateral meniscus due to injury of knee (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Derangement of posterior horn of medial meniscus due to injury of knee (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Derangement of meniscus due to injury of knee (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Abnormal fetal heart rate |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Ectrodactyly-ectodermal dysplasia-clefting syndrome |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
6 |
Hypoplastic enamel-onycholysis-hypohidrosis syndrome (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
5 |
A palpable change in the tissues of the body away from their normal state. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
A general term used to refer to any damage to or abnormality of the joint structure or surrounding soft tissue resulting in a limitation of joint movement. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Ectodermal dysplasia with tooth-nail-sweating defect (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
5 |
Ectodermal syndrome with hair-tooth-sweating defects (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
4 |
Ectodermal syndrome with hair-sweating defects (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Angiomatous nevus impairing vision (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
On examination - left posterior tibial pulse abnormal |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
4 |
On examination - Right posterior tibial pulse abnormal |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
4 |
ménisque discoïde congénital |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
2 |
Disorder of language |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Hay-Wells syndrome of ectodermal dysplasia |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
6 |
Presence of hemoglobin alpha-chain variant (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Presence of hemoglobin delta chain variant (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Derangement of posterior horn of medial meniscus |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
5 |
Derangement of knee |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
4 |
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
6 |
This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
8 |
A rare autosomal dominant ectodermal dysplasia syndrome characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features may include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Temporomandibular joint disc displacement without reduction with limited opening |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Derangement of posterior horn of lateral meniscus |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toenails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
6 |
Derangement of meniscus of knee joint due to and following old injury of knee (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Derangement of ankle (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Derangement of sacroiliac joint |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Derangement of temporomandibular joint |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Derangement of anterior horn of medial meniscus |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Derangement of anterior horn of lateral meniscus |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Consumption coagulopathy caused by snake venom |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Atypical haemolytic uraemic syndrome |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
10 |
Joint function disorder |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Craniotabes |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Rough skin (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Exaggerated |
Is a |
True |
Abnormal |
Inferred relationship |
Some |
|
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
5 |
Acute ST segment elevation myocardial infarction (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
4 |
Acute ST segment elevation myocardial infarction involving left anterior descending coronary artery |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Acute ST segment elevation myocardial infarction of inferolateral wall (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Acute ST segment elevation myocardial infarction of anterior wall (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Acute ST segment elevation myocardial infarction of inferior wall (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Acute ST segment elevation myocardial infarction of anterior wall involving right ventricle (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Acute ST segment elevation myocardial infarction of posterolateral wall |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Acute ST segment elevation myocardial infarction of anterolateral wall |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Acute ST segment elevation myocardial infarction of lateral wall |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Acute ST segment elevation myocardial infarction of anteroseptal wall |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Acute ST segment elevation myocardial infarction of posterior wall (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Acute ST segment elevation myocardial infarction due to right coronary artery occlusion (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
5 |
Acute ST segment elevation myocardial infarction of septum (disorder) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Acute ST segment elevation myocardial infarction of posterobasal wall |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Acute ST segment elevation myocardial infarction of inferior wall involving right ventricle |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Slow recovery phase of reflex (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Ankle reflex, slow recovery phase (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
On examination - ankle reflex, slow recovery phase |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
1 |
à l'examen : réflexe rotulien asymétrique |
Has interpretation |
False |
Abnormal |
Inferred relationship |
Some |
1 |
Knee reflexes unequal (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Biceps reflexes unequal (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Radial reflexes unequal |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Triceps reflexes unequal (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Ventricular inversion electrocardiogram pattern (finding) |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Acute ST segment elevation myocardial infarction due to left coronary artery occlusion |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
5 |
Rough skin of hands |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
High-grade urothelial carcinoma found on urine cytology |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Low-grade urothelial neoplasia found on urine cytology |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
At least 1 of these in 1 eye: optic nerve or nerve fibre layer suggestive of glaucoma; abnormal visual field consistent with glaucoma; an elevated IOP > 22 mm Hg. |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
1 |
Mediterranean macrothrombocytopenia |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Thrombocytopenia due to defective platelet production |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Platelet secretory disorder |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
2 |
Transient neonatal thrombocytopenia |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Wiskott-Aldrich syndrome |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |
Doan-Wright syndrome |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
6 |
Hermansky-Pudlak syndrome |
Has interpretation |
True |
Abnormal |
Inferred relationship |
Some |
3 |