Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Paraneoplastic hyponatremia (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Drug-induced hyponatraemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hyponatremia with extracellular fluid depletion |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Haemolytic uraemic syndrome with DGKE deficiency |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Haemolytic uraemic syndrome with DGKE deficiency |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Haemolytic uraemic syndrome with DGKE deficiency |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
Infection-related hemolytic uremic syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Infection-related hemolytic uremic syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Infection-related hemolytic uremic syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Glutathione synthetase deficiency |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Glutathione synthetase deficiency |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Glutathione synthase deficiency without 5-oxoprolinuria |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Glutathione synthase deficiency without 5-oxoprolinuria |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hyponatremia with decreased serum osmolality |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A rare genetic disease characterized by a highly variable phenotype comprising ocular anomalies (congenital glaucoma, myopia, retinal detachment, and/or Axenfeld-Rieger anomaly), congenital hypothyroidism, hearing loss, microcephaly, dental defects, kidney anomalies, cerebrovascular anomalies, and distal limb anomalies. Dysmorphic facial features may include square face with prominent jaw, broad flat nasal bridge, short philtrum, and prominent ears. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
densité diminuée |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Urine pH below reference range (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
A rare primary bone dysplasia characterised by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
A rare primary bone dysplasia characterised by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
10 |
Postpartum hemolysis-elevated liver enzymes-low platelet count syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Pelvic disproportion due to contracted pelvis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Fanconi anemia of complementation group C |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Fanconi anemia of complementation group C |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Fanconi anemia of complementation group C |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Fanconi anemia of complementation group C |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
International normalized ratio below reference range (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Ehlers-Danlos and osteogenesis imperfecta syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Haemoglobin D beta plus thalassaemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Haemoglobin E beta plus thalassaemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Haemoglobin C beta plus thalassaemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hemoglobin E beta zero thalassemia (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hemoglobin D beta zero thalassemia (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hemoglobin C beta zero thalassemia (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Pancytopenia caused by colchicine (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Pancytopenia caused by colchicine (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Pancytopenia caused by colchicine (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Pancytopenia caused by colchicine (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Pancytopenia caused by non-steroidal anti-inflammatory agent (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Pancytopenia caused by non-steroidal anti-inflammatory agent (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Pancytopenia caused by non-steroidal anti-inflammatory agent (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Pancytopenia caused by non-steroidal anti-inflammatory agent (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Delta beta thalassemia trait (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Postpartum iron deficiency anemia (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Postpartum iron deficiency anemia (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Iron deficiency anemia during maternal intrapartum period (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Iron deficiency anemia during maternal intrapartum period (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Glutathione synthase deficiency with 5-oxoprolinuria |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Glutathione synthase deficiency with 5-oxoprolinuria |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Atypical haemolytic uraemic syndrome with complement gene abnormality |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Atypical haemolytic uraemic syndrome with complement gene abnormality |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Atypical haemolytic uraemic syndrome with complement gene abnormality |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Atypical hemolytic uremic syndrome with anti-factor H antibodies |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Atypical hemolytic uremic syndrome with anti-factor H antibodies |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Atypical hemolytic uremic syndrome with anti-factor H antibodies |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Left ventricular pressure during mid-diastole below reference range |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Nocturnal hypoglycemia (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Congenital pontocerebellar hypoplasia type 11 (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Congenital pontocerebellar hypoplasia type 12 |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
Congenital pontocerebellar hypoplasia type 14 |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
Aplastic anemia, intellectual disability, dwarfism syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Aplastic anemia, intellectual disability, dwarfism syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Aplastic anemia, intellectual disability, dwarfism syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Aplastic anemia, intellectual disability, dwarfism syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
Aplastic anemia, intellectual disability, dwarfism syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
Aplastic anemia, intellectual disability, dwarfism syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
13 |
CIMDAG syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Pancytopenia caused by antidiabetic drug (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Pancytopenia caused by antidiabetic drug (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Pancytopenia caused by antidiabetic drug (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Pancytopenia caused by antidiabetic drug (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
TTS (thrombosis with thrombocytopenia syndrome) following non-replicating adenovirus vector COVID-19 vaccination |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A rare mesomelic and rhizo-mesomelic dysplasia with characteristics of marked mesomelic shortening of the lower limbs, cutaneous syndactyly and nail abnormalities (placed on the palmar side of the finger, dysplastic or absent) in hands and feet due to mutations in EN1 gene. Other clinical features may include genitourinary abnormalities (including bilateral cryptorchidism, vesicoureteral reflux, hydronephrosis, hypoplastic labia majora), spasticity and seizures. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
A rare mesomelic and rhizo-mesomelic dysplasia with characteristics of marked mesomelic shortening of the lower limbs, cutaneous syndactyly and nail abnormalities (placed on the palmar side of the finger, dysplastic or absent) in hands and feet due to mutations in EN1 gene. Other clinical features may include genitourinary abnormalities (including bilateral cryptorchidism, vesicoureteral reflux, hydronephrosis, hypoplastic labia majora), spasticity and seizures. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Dual energy X-ray absorptiometry of neck of femur result osteopenia (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Dual energy X-ray absorptiometry of bone of hip joint region result osteopenia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Heel DXA scan result osteoporotic |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Heel DXA scan result osteopenic |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Dual energy X-ray absorptiometry of bone of forearm result osteopenia (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Dual energy X-ray absorptiometry of bone of forearm result osteoporosis (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Dual energy X-ray absorptiometry of neck of femur result osteoporosis (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Dual energy X-ray absorptiometry of bone of hip joint region result osteoporosis (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Dual energy X-ray absorptiometry of bone of lumbar vertebra result osteoporosis (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal recessive combined immunodeficiency due to Wiskott Aldrich syndrome protein-interacting protein deficiency (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Thrombosis with thrombocytopenia syndrome following vaccination |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Progressive microcephaly, seizures, cortical blindness, developmental delay with combined immunodeficiency due to diaphanous related formin 1 mutation (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, Leber congenital amaurosis syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |