44687006: Giant platelet (morphologic abnormality)

SNOMED CT Concept\Body structure\Morphologically altered structure\Morphologically abnormal structure\Abnormal cellular component of blood\Abnormal platelet\Giant platelet (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

74543019 Giant platelet en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

74544013 Megathrombocyte en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

781843014 Giant platelet (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

74543019 Giant platelet en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

74543019 Giant platelet en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

74544013 Megathrombocyte en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

74544013 Megathrombocyte en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

781843014 Giant platelet (morphologic abnormality) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

781843014 Giant platelet (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Giant platelet (morphologic abnormality)	Is a	Abnormal platelet	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
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.	Associated morphology	True	Giant platelet (morphologic abnormality)	Inferred relationship	Existential restriction modifier (core metadata concept)	3

This concept is not in any reference sets