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771511005: Thrombocythemia with distal limb defect (disorder)


Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3706560019 Familial thrombocytosis with transverse limb defect en Synonym Active Case insensitive SNOMED CT core
3706561015 Thrombocythemia with distal limb defect (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3706562010 Thrombocythemia with distal limb defect en Synonym Active Case insensitive SNOMED CT core
3706563017 Hereditary thrombocytosis with transverse limb defect en Synonym Active Case insensitive SNOMED CT core
3706564011 Thrombocythaemia with distal limb defect en Synonym Active Case insensitive SNOMED CT core
3706565012 A rare genetic syndrome with limb reduction defects with characteristics of thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Thrombocythaemia with distal limb defect Associated morphology Congenital dysplasia false Inferred relationship Some 3
Thrombocythaemia with distal limb defect Is a Dysostosis true Inferred relationship Some
Thrombocythaemia with distal limb defect Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Thrombocythaemia with distal limb defect Is a Thrombocytosis true Inferred relationship Some
Thrombocythaemia with distal limb defect Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Thrombocythaemia with distal limb defect Is a Spleen finding true Inferred relationship Some
Thrombocythaemia with distal limb defect Is a Congenital anomaly of limb true Inferred relationship Some
Thrombocythaemia with distal limb defect Is a Inherited platelet disorder true Inferred relationship Some
Thrombocythaemia with distal limb defect Is a Congenital splenomegaly true Inferred relationship Some
Thrombocythaemia with distal limb defect Occurrence Congenital true Inferred relationship Some 3
Thrombocythaemia with distal limb defect Finding site Bone structure of extremity true Inferred relationship Some 3
Thrombocythaemia with distal limb defect Occurrence Congenital true Inferred relationship Some 2
Thrombocythaemia with distal limb defect Associated morphology Congenital enlargement false Inferred relationship Some 2
Thrombocythaemia with distal limb defect Finding site Entire spleen true Inferred relationship Some 2
Thrombocythaemia with distal limb defect Pathological process Pathological developmental process true Inferred relationship Some 2
Thrombocythaemia with distal limb defect Pathological process Pathological developmental process true Inferred relationship Some 3
Thrombocythaemia with distal limb defect Has interpretation Above reference range true Inferred relationship Some 1
Thrombocythaemia with distal limb defect Interprets Platelet count true Inferred relationship Some 1
Thrombocythaemia with distal limb defect Associated morphology Dysplasia true Inferred relationship Some 3
Thrombocythaemia with distal limb defect Interprets Haemostatic function true Inferred relationship Some 4
Thrombocythaemia with distal limb defect Has interpretation Abnormal false Inferred relationship Some 4
Thrombocythaemia with distal limb defect Associated morphology Enlargement true Inferred relationship Some 2
Thrombocythaemia with distal limb defect Has interpretation Abnormal true Inferred relationship Some 4
Thrombocythaemia with distal limb defect Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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