| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| May Hegglin syndrome |
Is a |
False |
Hereditary white blood cell disorder (disorder) |
Inferred relationship |
Some |
|
| Severe combined immunodeficiency with reticular dysgenesis (disorder) |
Is a |
True |
Hereditary white blood cell disorder (disorder) |
Inferred relationship |
Some |
|
| Hereditary eosinophilia |
Is a |
True |
Hereditary white blood cell disorder (disorder) |
Inferred relationship |
Some |
|
| Chronic granulomatous disease (disorder) |
Is a |
False |
Hereditary white blood cell disorder (disorder) |
Inferred relationship |
Some |
|
| Hereditary hypersegmentation |
Is a |
True |
Hereditary white blood cell disorder (disorder) |
Inferred relationship |
Some |
|
| Chédiak-Higashi syndrome |
Is a |
True |
Hereditary white blood cell disorder (disorder) |
Inferred relationship |
Some |
|
| Reticular dysgenesis |
Is a |
True |
Hereditary white blood cell disorder (disorder) |
Inferred relationship |
Some |
|
| Heritable disorder of neutrophil production (disorder) |
Is a |
True |
Hereditary white blood cell disorder (disorder) |
Inferred relationship |
Some |
|
| Heritable disorder of neutrophil function (disorder) |
Is a |
True |
Hereditary white blood cell disorder (disorder) |
Inferred relationship |
Some |
|
| Fanconi's anemia |
Is a |
True |
Hereditary white blood cell disorder (disorder) |
Inferred relationship |
Some |
|
| Shwachman syndrome |
Is a |
True |
Hereditary white blood cell disorder (disorder) |
Inferred relationship |
Some |
|
| Periodontitis co-occurrent with infantile genetic agranulocytosis |
Is a |
False |
Hereditary white blood cell disorder (disorder) |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Hereditary white blood cell disorder (disorder) |
Inferred relationship |
Some |
|
| Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications. |
Is a |
True |
Hereditary white blood cell disorder (disorder) |
Inferred relationship |
Some |
|
| A rare constitutional aplastic anemia disorder characterized by severe hypo/aplastic anemia or pancytopenia associated with skeletal anomalies (such as radial/ulnar defects and hand/digit abnormalities) and an increased risk of leukemia. There have been no further descriptions in the literature since 1995. |
Is a |
True |
Hereditary white blood cell disorder (disorder) |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia. |
Is a |
True |
Hereditary white blood cell disorder (disorder) |
Inferred relationship |
Some |
|
| Poikiloderma with neutropenia is a rare, genetic hereditary poikiloderma disorder characterized by early-onset poikiloderma (which typically begins in the extremities, progresses centripetally and eventually involves the trunk, face and ears) associated with chronic neutropenia, recurrent infections, pachyonychia and palmoplantar keratoderma. Growth and/or developmental delay and hepato- and/or splenomegaly are additional reported features. |
Is a |
True |
Hereditary white blood cell disorder (disorder) |
Inferred relationship |
Some |
|
| A rare constitutional aplastic anemia characterized by progressive trilineage bone marrow failure (with hypocellularity), developmental delay with learning disabilities, and microcephaly. Mild facial dysmorphism and hypotonia have also been reported. |
Is a |
True |
Hereditary white blood cell disorder (disorder) |
Inferred relationship |
Some |
|
| A rare, genetic, primary immunodeficiency disorder characterized by severe congenital neutropenia, bone marrow fibrosis and neutrophil dysfunction which is refractory to granulocyte colony-stimulating factor, manifesting with life-threatening infections and/or deep-seated abscesses, hepato-/splenomegaly, thrombocytopenia, hypergammaglobulinemia, anemia with reticulocytosis and nephromegaly. Other reported features include osteosclerosis and neurological abnormalities (e.g. developmental delay, cortical blindness, hearing loss, thin corpus callosum or dysrhythmia on EEG). |
Is a |
True |
Hereditary white blood cell disorder (disorder) |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Hereditary white blood cell disorder (disorder) |
Inferred relationship |
Some |
|
| Hereditary isolated aplastic anemia is a rare, genetic, constitutional aplastic anemia disorder characterized by severe peripheral blood pancytopenia and bone marrow hypoplasia in multiple individuals of a family, in the absence of any somatic symptoms. Abnormal bleeding, as well as erythrocyte macrocytosis, is reported and patients usually become transfusion dependent. |
Is a |
True |
Hereditary white blood cell disorder (disorder) |
Inferred relationship |
Some |
|
| Hereditary neutrophilia |
Is a |
True |
Hereditary white blood cell disorder (disorder) |
Inferred relationship |
Some |
|
| Familial hemophagocytic lymphohistiocytosis (disorder) |
Is a |
True |
Hereditary white blood cell disorder (disorder) |
Inferred relationship |
Some |
|
| Onycho-tricho-dysplasia neutropenia syndrome |
Is a |
True |
Hereditary white blood cell disorder (disorder) |
Inferred relationship |
Some |
|
| A rare genetic immune disease characterized by early onset of recurrent bacterial, viral, and fungal infections, chronic inflammatory bowel disease, gastritis, and inflammatory polyarthritis. Patients present with diarrhea, vomiting, hepatosplenomegaly, mouth ulcers, perianal abscesses, chronic lung disease with bronchiectasis, and failure to thrive. Occurrence of a skin rash associated with lymphocytic vasculitis has also been reported. Immunologic abnormalities include variable T-cell lymphopenia, decreased natural killer cells, and decreased B-cells with variable hypogammaglobulinemia. |
Is a |
True |
Hereditary white blood cell disorder (disorder) |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood. |
Is a |
True |
Hereditary white blood cell disorder (disorder) |
Inferred relationship |
Some |
|
| A rare genetic systemic or rheumatologic disease characterized by neonatal or infantile onset of enterocolitis (which resolves with age), periodic fever, and episodes of severe systemic inflammation, which may be precipitated by infections, stress, or fatigue. Signs and symptoms include splenomegaly, urticaria-like rashes, arthralgia, and myalgia. Associated laboratory findings are elevated inflammatory markers (such as ferritin, C-reactive protein), pancytopenia, and elevated transaminases. If left untreated, flares can progress to coagulopathy, organ failure, and death. |
Is a |
True |
Hereditary white blood cell disorder (disorder) |
Inferred relationship |
Some |
|
| A rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by severe postnatal growth retardation, craniofacial dysmorphism, which includes a progeroid facial appearance, brachycephaly with hypoplasia of the frontal and parietal tubers and a flat occipital area, narrow forehead, prominent glabella, small orbit, slight bilateral exophthalmos, straight nose, hypoplastic cheekbones, long philtrum and thin lips, skeletal abnormalities (i.e. micromelia, brachydactyly, and severe short stature with short limbs), normal intelligence, Pelger-Huët anomaly of leukocytes, loose skin with decreased tissue turgor, and bilateral optic atrophy with loss of color vision and visual acuity. Recurrent liver failure triggered by fever has been occasionally reported. Radiographs may evidence delayed bone age, late ossification and/or osteoporosis. |
Is a |
True |
Hereditary white blood cell disorder (disorder) |
Inferred relationship |
Some |
|
| Warts, hypogammaglobulinaemia, infections, and myelokathexis |
Is a |
True |
Hereditary white blood cell disorder (disorder) |
Inferred relationship |
Some |
|
| Leukocyte adhesion deficiency |
Is a |
True |
Hereditary white blood cell disorder (disorder) |
Inferred relationship |
Some |
|
| A rare disorder characterized by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms. |
Is a |
True |
Hereditary white blood cell disorder (disorder) |
Inferred relationship |
Some |
|
| Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder) |
Is a |
True |
Hereditary white blood cell disorder (disorder) |
Inferred relationship |
Some |
|
| A rare constitutional aplastic anaemia characterised by aplastic anaemia, intellectual disability, short stature, and microcephaly. Skin pigmentation or cafe au lait spots are often present. Majority of the patients present global developmental delay with impaired motor skills, learning disabilities, speech delay whereas some patients also may have behavioural problems including autistic features. Patients often develop premalignant myelodysplastic syndromes or leukaemia. |
Is a |
True |
Hereditary white blood cell disorder (disorder) |
Inferred relationship |
Some |
|
| 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. |
Is a |
True |
Hereditary white blood cell disorder (disorder) |
Inferred relationship |
Some |
|
FHIR
© HL7.org
|
Server Home |
FHIR Server FHIR Server 3.7.22-SNAPSHOT
|
FHIR Version n/a
User: [n/a]