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414395005: Hereditary white blood cell disorder (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2005. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2530856015 Hereditary white blood cell disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2534321015 Hereditary white blood cell disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2530856015 Hereditary white blood cell disorder (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2530856015 Hereditary white blood cell disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2534321015 Hereditary white blood cell disorder en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2534321015 Hereditary white blood cell disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6294531000241116 affection héréditaire des globules blancs fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6294541000241114 affection leucocytaire héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6294531000241116 affection héréditaire des globules blancs fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6294541000241114 affection leucocytaire héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

46 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary white blood cell disorder (disorder) Is a Hereditary disorder of cellular element of blood true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary white blood cell disorder (disorder) Is a White blood cell disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary white blood cell disorder (disorder) Is a Hereditary disorder of immune system true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary white blood cell disorder (disorder) Associated morphology White blood cell abnormality (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary white blood cell disorder (disorder) Has definitional manifestation White blood cell finding false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary white blood cell disorder (disorder) Finding site Body system structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary white blood cell disorder (disorder) Has definitional manifestation Immune system finding false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary white blood cell disorder (disorder) Has definitional manifestation Immune system finding false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary white blood cell disorder (disorder) Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group
May Hegglin syndrome Is a False Hereditary white blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency with reticular dysgenesis (disorder) Is a True Hereditary white blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary eosinophilia Is a True Hereditary white blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Chronic granulomatous disease (disorder) Is a False Hereditary white blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary hypersegmentation Is a True Hereditary white blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Chédiak-Higashi syndrome Is a True Hereditary white blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Reticular dysgenesis Is a True Hereditary white blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Heritable disorder of neutrophil production (disorder) Is a True Hereditary white blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Heritable disorder of neutrophil function (disorder) Is a True Hereditary white blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Fanconi's anemia Is a True Hereditary white blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Shwachman syndrome Is a True Hereditary white blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Periodontitis co-occurrent with infantile genetic agranulocytosis Is a False Hereditary white blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
Revesz syndrome (disorder) Is a True Hereditary white blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
WT limb blood syndrome (disorder) Is a True Hereditary white blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ataxia pancytopenia syndrome (disorder) Is a True Hereditary white blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Poikiloderma with neutropenia Is a True Hereditary white blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic hematologic disorder 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. There is evidence the disease is caused by homozygous mutation in the ERCC6L2 gene on chromosome 9q22. Is a True Hereditary white blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder) Is a True Hereditary white blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder) Is a True Hereditary white blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary isolated aplastic anemia Is a True Hereditary white blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary neutrophilia (disorder) Is a True Hereditary white blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial hemophagocytic lymphohistiocytosis Is a True Hereditary white blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Onycho-tricho-dysplasia neutropenia syndrome (disorder) Is a True Hereditary white blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) Is a True Hereditary white blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Is a True Hereditary white blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder) Is a True Hereditary white blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Warts, hypogammaglobulinemia, infections, and myelokathexis (disorder) Is a True Hereditary white blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Leucocyte adhesion deficiency Is a True Hereditary white blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Glutathione synthetase deficiency Is a True Hereditary white blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder) Is a True Hereditary white blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Aplastic anemia, intellectual disability, dwarfism syndrome (disorder) Is a True Hereditary white blood cell disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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