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234469001: Inherited platelet 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
351302017 Inherited platelet disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
622793014 Inherited platelet disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2535934017 Hereditary thrombocytopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2535935016 Hereditary platelet disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
345361000077116 anomalie plaquettaire héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

68 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Inherited platelet disorder Is a Platelet disorder true Inferred relationship Some
Inherited platelet disorder Finding site Platelet false Inferred relationship Some
Inherited platelet disorder Finding site Hematopoietic system structure false Inferred relationship Some
Inherited platelet disorder Finding site Hematopoietic system structure false Inferred relationship Some
Inherited platelet disorder Is a Hereditary disorder of cellular element of blood (disorder) false Inferred relationship Some
Inherited platelet disorder Finding site Body system structure false Inferred relationship Some
Inherited platelet disorder Has definitional manifestation Platelet finding false Inferred relationship Some
Inherited platelet disorder Has definitional manifestation Hemostatic system finding false Inferred relationship Some
Inherited platelet disorder Is a Hereditary disease false Inferred relationship Some
Inherited platelet disorder Is a Hereditary disorder of cellular element of blood (disorder) true Inferred relationship Some
Inherited platelet disorder Finding site Body system structure true Inferred relationship Some 1
Inherited platelet disorder Has interpretation Abnormal true Inferred relationship Some 2
Inherited platelet disorder Interprets Hemostatic function true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Platelet membrane defect Is a True Inherited platelet disorder Inferred relationship Some
Thromboxane generation defect Is a True Inherited platelet disorder Inferred relationship Some
Giant platelet syndrome Is a True Inherited platelet disorder Inferred relationship Some
Hereditary platelet function disorder Is a True Inherited platelet disorder Inferred relationship Some
May Hegglin syndrome Is a False Inherited platelet disorder Inferred relationship Some
syndrome d'Epstein Is a False Inherited platelet disorder Inferred relationship Some
Hereditary thrombocytopenic disorder (disorder) Is a True Inherited platelet disorder Inferred relationship Some
Upshaw-Schulman syndrome (disorder) Is a True Inherited platelet disorder Inferred relationship Some
Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation. Is a True Inherited platelet disorder Inferred relationship Some
Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterized by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15). Is a True Inherited platelet 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 Inherited platelet 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 Inherited platelet 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 Inherited platelet disorder Inferred relationship Some
Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly. Is a True Inherited platelet 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 Inherited platelet 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 Inherited platelet 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 Inherited platelet 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 Inherited platelet disorder Inferred relationship Some

Reference Sets

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US English

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