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438492008: Hereditary thrombocytopenic disorder (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2009. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2788589014 Hereditary thrombocytopenic disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2790581011 Hereditary thrombocytopenic disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

23 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary thrombocytopenic disorder (disorder) Is a Inherited platelet disorder true Inferred relationship Some
Hereditary thrombocytopenic disorder (disorder) Is a Thrombocytopenic disorder true Inferred relationship Some
Hereditary thrombocytopenic disorder (disorder) Has definitional manifestation Platelet count below reference range (finding) false Inferred relationship Some
Hereditary thrombocytopenic disorder (disorder) Finding site Body system structure true Inferred relationship Some 2
Hereditary thrombocytopenic disorder (disorder) Has interpretation Below reference range true Inferred relationship Some 1
Hereditary thrombocytopenic disorder (disorder) Interprets Platelet count true Inferred relationship Some 1
Hereditary thrombocytopenic disorder (disorder) Has interpretation Abnormal false Inferred relationship Some 3
Hereditary thrombocytopenic disorder (disorder) Interprets Hemostatic function false Inferred relationship Some 3
Hereditary thrombocytopenic disorder (disorder) Has interpretation Abnormal true Inferred relationship Some 3
Hereditary thrombocytopenic disorder (disorder) Interprets Hemostatic function true Inferred relationship Some 3
Inbound Relationships Type Active Source Characteristic Refinability Group
Radial aplasia-thrombocytopenia syndrome Is a True Hereditary thrombocytopenic disorder (disorder) Inferred relationship Some
Epstein syndrome Is a False Hereditary thrombocytopenic disorder (disorder) Inferred relationship Some
Bernard Soulier syndrome Is a True Hereditary thrombocytopenic disorder (disorder) Inferred relationship Some
Congenital dysmegakaryopoietic thrombocytopenia, Paris Trousseau type (disorder) Is a True Hereditary thrombocytopenic disorder (disorder) Inferred relationship Some
Wiskott-Aldrich syndrome Is a True Hereditary thrombocytopenic disorder (disorder) Inferred relationship Some
Fanconi's anemia Is a True Hereditary thrombocytopenic disorder (disorder) Inferred relationship Some
MYH9 related disease Is a False Hereditary thrombocytopenic disorder (disorder) Inferred relationship Some
DK phocomelia syndrome (disorder) Is a True Hereditary thrombocytopenic disorder (disorder) Inferred relationship Some
MYH9 macrothrombocytopenia syndrome Is a False Hereditary thrombocytopenic disorder (disorder) Inferred relationship Some
Autosomal dominant macrothrombocytopenia (disorder) Is a True Hereditary thrombocytopenic disorder (disorder) Inferred relationship Some
X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder) Is a True Hereditary thrombocytopenic disorder (disorder) Inferred relationship Some
Thyrocerebrorenal syndrome Is a True Hereditary thrombocytopenic disorder (disorder) Inferred relationship Some
May-Hegglin anomaly Is a False Hereditary thrombocytopenic disorder (disorder) Inferred relationship Some
Hereditary thrombocytopenia with normal platelets Is a True Hereditary thrombocytopenic disorder (disorder) Inferred relationship Some
X-linked thrombocytopenia with normal platelets (disorder) Is a True Hereditary thrombocytopenic disorder (disorder) Inferred relationship Some
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome Is a True Hereditary thrombocytopenic disorder (disorder) Inferred relationship Some
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome Is a True Hereditary thrombocytopenic disorder (disorder) Inferred relationship Some
Hereditary thrombocytopenia with early-onset myelofibrosis Is a True Hereditary thrombocytopenic disorder (disorder) Inferred relationship Some
Autosomal dominant thrombocytopenia with platelet secretion defect Is a True Hereditary thrombocytopenic disorder (disorder) Inferred relationship Some
Severe autosomal recessive macrothrombocytopenia (disorder) Is a True Hereditary thrombocytopenic disorder (disorder) Inferred relationship Some
Congenital autosomal recessive small-platelet thrombocytopenia (disorder) Is a True Hereditary thrombocytopenic disorder (disorder) Inferred relationship Some
Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder) Is a True Hereditary thrombocytopenic disorder (disorder) Inferred relationship Some
Autosomal recessive combined immunodeficiency due to Wiskott Aldrich syndrome protein-interacting protein deficiency (disorder) Is a True Hereditary thrombocytopenic disorder (disorder) Inferred relationship Some
Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect Is a True Hereditary thrombocytopenic disorder (disorder) Inferred relationship Some

This concept is not in any reference sets

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