Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Combined immunodeficiency, enteropathy spectrum |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinaemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Short stature, advanced bone age, early-onset osteoarthritis syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Steel syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
8 |
Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Microcephalic osteodysplastic primordial dwarfism type II |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Microcephalic osteodysplastic primordial dwarfism type II |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Progressive cerebello-cerebral atrophy |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Congenital autosomal recessive small-platelet thrombocytopenia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Multifocal lymphangioendotheliomatosis, thrombocytopenia syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Bilateral stiffness of foot joints |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
L-ferritin deficiency |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Hyperostosis cranialis interna |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
PLAA-associated neurodevelopmental disorder |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Severe myopia, generalised joint laxity, short stature syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
QRICH1-related intellectual disability, chondrodysplasia syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
8 |
Microcephalic primordial dwarfism, insulin resistance syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Microcephalic primordial dwarfism, insulin resistance syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
RNF13-related severe early-onset epileptic encephalopathy |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
1p35.2 microdeletion syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Complex lethal osteochondrodysplasia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Amniotic fluid volume below reference range |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
9q33.3q34.11 microdeletion syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
11q22.2q22.3 microdeletion syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
19p13.3 microduplication syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Haemoglobin E/beta thalassaemia disease |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
MIRAGE syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
DONSON-related microcephaly, short stature, limb abnormalities spectrum |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
DONSON-related microcephaly, short stature, limb abnormalities spectrum |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Placental volume below reference range |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
46,XX ovarian dysgenesis, short stature syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
PYCR2-related microcephaly, progressive leucoencephalopathy |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
NDE1-related microhydranencephaly |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
Cerebellar-facial-dental syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
Short stature, developmental delay, congenital heart defect syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Coffin-Lowry syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
Fatty acyl-CoA reductase 1 deficiency |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Fatty acyl-CoA reductase 1 deficiency |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
Warts, hypogammaglobulinaemia, infections, and myelokathexis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
USP18 deficiency |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
8 |
Classical-like Ehlers-Danlos syndrome type 2 |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
Oculocerebrodental syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
X-linked intellectual disability, short stature, overweight syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
Upshaw-Schulman syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
Hypoxic nephrosis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Hypocomplementaemic urticarial vasculitis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Low von Willebrand factor |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Hypoglobulinaemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Decreased renal clearance |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Menke Hennekam syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Menke Hennekam syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
AIDS (acquired immunodeficiency syndrome) wasting syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Idiopathic steroid-resistant nephrotic syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Haematopoietic subsyndrome of acute radiation syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |
Haematopoietic subsyndrome of acute radiation syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
Haematopoietic subsyndrome of acute radiation syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
Haematopoietic subsyndrome of acute radiation syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
7 |
Platelet count below reference range |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Platelet count below reference range at birth |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Decreased 17-ketosteroids level |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Decreased pulmonary arterial wedge pressure |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Theophylline level low |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Granulocyte count below reference range |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
MCV - low |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Whole blood folate low |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Hypothermia due to anaesthetic |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
2 |
Severe cytopenia |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Transitory cytopenia |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Urine specific gravity low |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Decreased 17-ketogenic steroids level |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Hypothermia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
O/E - profoundly anaemic |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Hypoviscosity |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Hypothermia - accidental |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
2 |
Decreased pituitary luteinising hormone level |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Cerebrospinal fluid globulin below reference range |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
O/E - hypothermia - less than 32 degrees Celsius |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
2 |
Marrow megakaryocyte decrease |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Cytopenia |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Measurement finding below reference range |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Alpha-fetoprotein low |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Decreased vitamin D |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Random blood sugar low |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Decreased carbohydrate |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Decreased vital capacity |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Reticulocytopenia |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
2 |
Serum folate low |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |
Decreased pentose |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Some |
1 |