Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Hemolytic disease of fetus due to ABO immunization |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hemolytic disease of fetus due to ABO immunization |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Fetal thrombocytopenia (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Anaemia due to chronic kidney disease stage 1 |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Anaemia due to chronic kidney disease stage 1 |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Thrombocytopenic purpura |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Thrombocytopenic purpura |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Chronic idiopathic thrombocytopenic purpura |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Chronic idiopathic thrombocytopenic purpura |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
Posttransfusion purpura (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Posttransfusion purpura (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
purpura thrombopénique idiopathique |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
purpura thrombopénique idiopathique |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
Post infectious thrombocytopenic purpura |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Post infectious thrombocytopenic purpura |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Thrombocytopenic purpura due to defective platelet production (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Thrombocytopenic purpura due to defective platelet production (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Thrombocytopenic purpura due to platelet consumption (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Thrombocytopenic purpura due to platelet consumption (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
purpura thrombopénique congénital |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
purpura thrombopénique congénital |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
Thrombocytopenic purpura associated with metabolic disorder (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Thrombocytopenic purpura associated with metabolic disorder (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
purpura thrombopénique aigu idiopathique |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
purpura thrombopénique aigu idiopathique |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
Upshaw-Schulman syndrome (disorder) |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
Drug induced thrombotic thrombocytopenic purpura (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
B cell lymphocyte aplasia caused by drug (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Onycho-tricho-dysplasia neutropenia syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hypothermia due to cold environment (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Thrombocytopenia due to hypothermia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Neonatal vitamin B12 deficiency due to maternal vitamin B12 deficiency (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Iatrogenic hypoglycaemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Glomerular filtration rate below reference range (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Immersion hypothermia (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Haemolytic anaemia of pregnancy |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Haemolytic anaemia of pregnancy |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Agammaglobulinemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hypogammaglobulinemia |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Osteopetrosis hypogammaglobulinemia syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Hypogammaglobulinaemia due to multiple myeloma |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hypogammaglobulinaemia due to monoclonal gammopathy of undetermined significance |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Macrocytic anaemia of pregnancy |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Macrocytic anaemia of pregnancy |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Nutritional anemia of pregnancy (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Nutritional anemia of pregnancy (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Base deficit |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Deficiency of N-acetylgalactosamine-6-sulphatase |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Fetal microcephaly (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Sporadic fetal brain disruption sequence |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
24 hour urine volume below reference range (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Vomit pH more acidic than reference range (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Leukopenia caused by drug (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Creatinine clearance below reference range (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Microcephaly (finding) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital microcephaly (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Amish lethal microcephaly (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Secondary microcephaly |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Achalasia microcephaly syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
A multiple congenital anomaly disorder characterised by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Aphalangy and syndactyly with microcephaly syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
A rare genetic non-syndromic developmental defect during embryogenesis malformation syndrome with characteristics of congenital, non-progressive, occipitofrontal head circumference that is 2 or more standard deviations below the mean for age, gender and ethnicity which is associated with normal brain architecture and uncomplicated by other abnormalities. Borderline to moderate intellectual disability, as well as early psychomotor delay, may or may not be associated. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cleft palate, large ears, small head syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A rare genetic neurometabolic disorder with characteristics of severe progressive microcephaly, severe to profound global development delay, intellectual disability, seizures (typically tonic and/or myoclonic and frequently intractable), hyperekplexia and axial hypotonia with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomegaly, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination). Cortical blindness, feeding difficulties and respiratory insufficiency may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the ASNS gene on chromosome 7q21. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Deficiency of leukotriene C4 synthase |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Epilepsy, microcephaly, skeletal dysplasia syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Epiphyseal dysplasia, microcephalus, nystagmus syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Goldberg Shprintzen megacolon syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Filippi syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Hypocalcemia due to chronic kidney disease |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hypophosphatemia due to chronic kidney disease |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hydromicrocephaly (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
A rare non-acquired pituitary hormone deficiency syndrome with characteristics of severe congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
Hall Riggs syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Jawad syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by psychomotor and growth delay, severe intellectual disability, microcephaly, and hypoplastic corpus callosum. Additional reported manifestations include increased muscle tonus, seizures, cardiac anomalies, recurrent bronchopneumonia, camptodactyly, preauricular skin tag, and dysmorphic facial features (such as broad forehead, hypertelorism, flat nasal bridge, anteverted nostrils, and prominent ears), among others. |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Autosomal dominant sideroblastic anemia (disorder) |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Autosomal dominant sideroblastic anemia (disorder) |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Microcephalic primordial dwarfism Alazami type |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Microcephalic primordial dwarfism Dauber type |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Lowry MacLean syndrome (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Microcephalic osteodysplastic dysplasia, Saul-Wilson type is a skeletal dysplasia characterised by a distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses etc.). |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Microcephalic osteodysplastic primordial dwarfism types I and III |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Microcephalic primordial dwarfism Montreal type |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Hemolytic anemia due to red cell enolase deficiency (disorder) |
Has interpretation |
True |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hemolytic anemia due to red cell enolase deficiency (disorder) |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Haemoglobin Paksé disease |
Has interpretation |
False |
Below reference range |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |