Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
A rare unclassified autoinflammatory syndrome characterised by neonatal onset pancytopenia, type I interferon-dependent multisystemic autoinflammation, painful rash with variable frequencies and haemophagocytic lymphohistiocytosis. Failure to thrive, fever, gastrointestinal/upper respiratory tract infections, enterocolitis, hepatosplenomegaly, myelofibrosis and neurodevelopmental delay are other common clinical features. Facial dysmorphism including macrocephaly, mild frontal bossing, sparse hair, mild hypertelorism, depressed nasal bridge can be present. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
6 |
A rare skeletal dysplasia characterized by disproportionate short stature with short limbs, small hands and feet, and midface hypoplasia with small nose. Mild spondylar dysplasia, delayed epiphyseal ossification of the hip and knee, and severe brachydactyly with cone shaped phalangeal epiphyses are characteristic features. In adulthood, premature spondylosis and degenerative joint disease develop in some patients. Frequent respiratory infections with prolonged cough and inspiratory stridor, consistent with laryngomalacia, can also be present. Intelligence, dentition, hearing and visual acuity are not affected. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay and intellectual disability, epileptic encephalopathy, horseshoe or hypoplastic kidney, failure to thrive, hypertrichosis of the limbs and respiratory problems (including apnoea, multicompartmental respiratory disease, intermittent hyperventilation) along with mesomelic dysplasia (Nievergelt/Savarirayan type). Dysmorphic facial features may include microcephaly, synophrys, large nose with prominent nasal tip and low hanging columella, protruding ears, smooth/short philtrum, wide mouth with square upper lip, widely spaced teeth and micrognathia. Strabismus, myopia, cortical visual impairment and hearing loss can also be present. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
5 |
Beta thalassemia major in mother complicating pregnancy |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Beta thalassemia trait in mother complicating pregnancy (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Alpha thalassemia trait in mother complicating pregnancy (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
2 |
Body height below reference range |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Familial short stature (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Short stature of childhood (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Short stature for age (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Ineffective thrombopoiesis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Postural drop in blood pressure |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Venous wedge pressure below reference range (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Venous pressure below reference range (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Mean arterial pressure below reference range (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Central venous pressure below reference range |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Diastolic arterial pressure below reference range (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Jugular venous pressure below reference range |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Systolic arterial pressure below reference range (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
A finding of decreased blood pressure; not necessarily a hypotensive disorder. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Minimal change nephrotic syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
1 |
Hereditary pyropoikilocytosis |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
3 |
Early-onset neurodegeneration, choreoathetoid movement, microcytic anemia due to iron responsive element binding protein 2 gene mutation (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Some |
4 |