Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
Osteochondrodysplasia with osteopetrosis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia is a rare, genetic, constitutional dyserythropoietic anemia disorder characterized by moderate to severe anemia without thrombocytopenia, variable degrees of neutropenia, and bone marrow biopsy findings of trilineage dysplasia and hypocellularity of erythroid and granulocytic lineages. Peripheral blood findings include anisocytosis, macrocytosis, poikilocytosis, elliptocytes, and fragmented erythrocytes. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
A rare, genetic, dermis elastic tissue disease characterized by redundant, overfolded skin of variable severity, ranging from wrinkly skin to cutis laxa associated with pre- and post-natal growth retardation, hypotonia, mild to moderate developmental delay, late closure of anterior fontanelle, and craniofacial dysmorphism (including microcephaly, hypertelorism, downslanting palpebral fissures, large, prominent nasal root with funnel nose, small, low-set ears, long philtrum, drooping facial skin). Additional manifestations may include seizures, intellectual disability, congenital hip dislocation, inguinal hernia, and cortical and cerebellar malformations. Pretibial pseudo-ecchymotic skin lesions have occasionally been associated. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Inlet pelvic contraction - delivered |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Craniometadiaphyseal dysplasia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Cole-Carpenter dysplasia (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Hypoglycemia due to type 1 diabetes mellitus |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
rétrécissement du détroit pelvien supérieur avec problème prénatal |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Hypoglycemia due to type 2 diabetes mellitus (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Osteopetrosis-hypogammaglobulinemia syndrome is an extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (e.g. anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Transversely contracted pelvis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Bruck syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Stiffness of bilateral shoulder joints (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Stiffness of bilateral hand joints (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Hereditary elliptocytosis with transient poikilocytosis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Hereditary elliptocytosis with transient poikilocytosis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Hereditary elliptocytosis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Hereditary elliptocytosis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Temporomandibular joint stiff |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
A rare constitutional hemolytic anemia that is characterized by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
8 |
A rare constitutional hemolytic anemia that is characterized by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
7 |
Anemia due to chronic infectious disease (disorder) |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Anemia due to chronic infectious disease (disorder) |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
2 |
Gamma delta beta thalassemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Gamma delta beta thalassemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Atypical haemolytic uraemic syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Atypical haemolytic uraemic syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Atypical haemolytic uraemic syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
7 |
Metabolic acidosis due to diabetes mellitus (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Acidosis due to type 1 diabetes mellitus (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Acidosis due to type 2 diabetes mellitus (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Dyslipidemia with high density lipoprotein below reference range and triglyceride above reference range due to type 2 diabetes mellitus |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Hypoglycemic event due to diabetes |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Mixed hypoglycemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Hypoglycemia of childhood |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Autoimmune hypoglycemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Leucine-induced hypoglycemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Ketotic hypoglycemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Factitious hypoglycemia |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
2 |
Fasting hypoglycemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Spontaneous hypoglycemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Drug-induced hypoglycemia without coma |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Post gastrointestinal tract surgery hypoglycemia |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
4 |
Late dumping syndrome |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
5 |
Hypoglycemic disorder |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Neuroglycopenia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Non-diabetic hypoglycemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Alimentary hypoglycemia |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
4 |
Drug-induced hypoglycemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Alcohol-induced hypoglycaemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Ectopic IGF hypoglycaemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Ectopic IGF-1 hypoglycaemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Ectopic IGF-2 hypoglycemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Hypoglycemia due to neoplasm (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Iatrogenic neonatal hypoglycemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Hypoglycaemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Hypoglycemic shock |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Neonatal hypoglycemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Hypoglycemic coma due to type 1 diabetes mellitus (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
Hypoglycaemic coma in diabetes mellitus |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
Transitory neonatal hypoglycaemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Transient neonatal hypoglycemia due to hyperinsulinemia (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Transitory iatrogenic neonatal hypoglycemia (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
Hypoinsulinemic hypoglycemia and body hemihypertrophy is a rare, genetic, endocrine disease characterized by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinemic (or hypoketotic hypo-fatty-acidemic) hypoglycemia in infancy, which results in episodes of reduced consciousness and seizures. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Ketoacidosis due to type 1 diabetes mellitus |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Diabetic ketoacidosis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Ketoacidosis due to type 2 diabetes mellitus (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Diabetic ketoacidosis without coma |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Lactic acidosis due to diabetes mellitus |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Malnutrition-related diabetes mellitus with ketoacidosis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Ketoacidotic coma due to diabetes mellitus |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Ketoacidotic coma due to type 2 diabetes mellitus (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Ketoacidotic coma due to type 1 diabetes mellitus (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
Hypoglycemic coma due to type 2 diabetes mellitus |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Pulmonic stenosis and congenital nephrosis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Body temperature below reference range |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Accidental hypothermia in elderly person |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Hypothermia - accidental |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Hypothermia of newborn |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
à l'examen : hypothermie |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Newborn environmental hypothermia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Induced hypothermia (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Hypothermia caused by anesthetic (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Unplanned perioperative hypothermia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Hypothermia not associated with low environmental temperature |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Blood substance level below reference range (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Left ventricular ejection fraction decreased |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Primaquine sensitivity anaemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Primaquine sensitivity anaemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Eosinopenia due to infectious disease (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Lymphocytopenia due to COVID-19 |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Thrombocytopenia due to COVID-19 |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Megaloblastic anemia due to dihydrofolate reductase deficiency (disorder) |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
2 |
Megaloblastic anemia due to dihydrofolate reductase deficiency (disorder) |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
3 |
Lymphopenia due to infection |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Neonatal lymphocytopenia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Episodic lymphocytopenia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Lymphocytopenia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Panleukopenia (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Hemolytic disease of fetus due to ABO immunization |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |