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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
2788589014 Hereditary thrombocytopenic disorder (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
6314861000241116 thrombocytopénie héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6314871000241112 trouble thrombocytopénique héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6314861000241116 thrombocytopénie héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6314871000241112 trouble thrombocytopénique héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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 Existential restriction modifier (core metadata concept)
Hereditary thrombocytopenic disorder (disorder) Is a Thrombocytopenic disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary thrombocytopenic disorder (disorder) Has definitional manifestation Platelet count below reference range (finding) false Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary thrombocytopenic disorder (disorder) Finding site Body system structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hereditary thrombocytopenic disorder (disorder) Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary thrombocytopenic disorder (disorder) Interprets Platelet count true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary thrombocytopenic disorder (disorder) Has interpretation Abnormal false Inferred relationship Existential restriction modifier (core metadata concept) 3
Hereditary thrombocytopenic disorder (disorder) Interprets Hemostatic function false Inferred relationship Existential restriction modifier (core metadata concept) 3
Hereditary thrombocytopenic disorder (disorder) Has interpretation Abnormal true Inferred relationship Existential restriction modifier (core metadata concept) 3
Hereditary thrombocytopenic disorder (disorder) Interprets Hemostatic function true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group
Radial aplasia-thrombocytopenia syndrome Is a True Hereditary thrombocytopenic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
syndrome d'Epstein Is a False Hereditary thrombocytopenic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Bernard Soulier syndrome Is a True Hereditary thrombocytopenic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital dysmegakaryopoietic thrombocytopenia, Paris Trousseau type (disorder) Is a True Hereditary thrombocytopenic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Wiskott-Aldrich syndrome Is a True Hereditary thrombocytopenic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Fanconi's anemia Is a True Hereditary thrombocytopenic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD. Is a False Hereditary thrombocytopenic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
DK phocomelia syndrome (disorder) Is a True Hereditary thrombocytopenic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
MYH9 macrothrombocytopenia syndrome Is a False Hereditary thrombocytopenic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets. Is a True Hereditary thrombocytopenic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder) Is a True Hereditary thrombocytopenic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Thyrocerebrorenal syndrome Is a True Hereditary thrombocytopenic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
May-Hegglin anomaly Is a False Hereditary thrombocytopenic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary thrombocytopenia with normal platelets (disorder) Is a True Hereditary thrombocytopenic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked thrombocytopenia with normal platelets (disorder) Is a True Hereditary thrombocytopenic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome Is a True Hereditary thrombocytopenic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome (disorder) Is a True Hereditary thrombocytopenic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary thrombocytopenia with early-onset myelofibrosis Is a True Hereditary thrombocytopenic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant thrombocytopenia with platelet secretion defect Is a True Hereditary thrombocytopenic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Severe autosomal recessive macrothrombocytopenia (disorder) Is a True Hereditary thrombocytopenic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital autosomal recessive small-platelet thrombocytopenia (disorder) Is a True Hereditary thrombocytopenic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder) Is a True Hereditary thrombocytopenic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive combined immunodeficiency due to Wiskott Aldrich syndrome protein-interacting protein deficiency (disorder) Is a True Hereditary thrombocytopenic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder) Is a True Hereditary thrombocytopenic disorder (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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