OMOP Concept 4134436
Hereditary platelet function disorder
StandardConditionSNOMED128096008Disorder
Maps from
1
Descendants
28
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to Hereditary platelet function disorder via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| Nebraska Lexicon | 128096008 | Hereditary platelet function disorder | Non-standard |
Synonyms
Alternative names recorded for Hereditary platelet function disorder across source vocabularies.
- Hereditary platelet function disorder (disorder)
- trastorno de la función plaquetaria hereditario
- trastorno de la función plaquetaria hereditario (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(14)Roll up to these when you need a wider cohort.
- 1Inherited platelet disorder
- 1Qualitative platelet disorder
- 2Hereditary disorder of cellular element of blood
- 2Platelet disorder
- 3Disorder of cellular component of blood
- 3Disorder of hemostatic system
- 3Hereditary disorder by system
- 4Disease
- 4Disorder of body system
- 4Finding of blood, lymphatics and immune system
- 4Functional finding
- 4Hereditary disease
- 5Clinical finding
- 5Genetic disease
Narrower concepts
(28)Included automatically when you query with descendants.
- 1Bernard Soulier syndrome
- 1Bleeding diathesis due to collagen receptor defect
- 1Bleeding disorder due to calcium and DAG-regulated guanine exchange factor-1 deficiency
- 1Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
- 1Defect of purinergic receptor p2y G protein-coupled 12
- 1Familial alpha-2 adrenergic receptor defect in platelets
- 1Glanzmann's thrombasthenia
- 1Isolated collagen aggregation defect
- 1Platelet procoagulant activity deficiency
- 1Platelet secretory disorder
- 1Platelet storage pool defect
- 1Pseudo von Willebrand disease
- 1Scott syndrome
- 1Severe autosomal recessive macrothrombocytopenia
- 2Autosomal dominant thrombocytopenia with platelet secretion defect
- 2Dense body defect
- 2Gray platelet syndrome
- 2Mixed alpha granule and dense body deficiency
- 2Platelet factor V deficiency (factor V Quebec)
- 2White platelet syndrome
- 3Chédiak-Higashi syndrome
- 3Familial platelet syndrome with predisposition to acute myelogenous leukemia
- 3Hermansky-Pudlak syndrome
- 3Medich giant platelet syndrome
- 3Platelet dense granule deficiency
- 3Wiskott-Aldrich syndrome
- 4Attenuated Chédiak-Higashi syndrome
- 4Wiskott-Aldrich autosomal dominant variant syndrome
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