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234469001: Inherited platelet disorder (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2005. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
351302017 Inherited platelet disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
622793014 Inherited platelet disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2535934017 Hereditary thrombocytopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2535935016 Hereditary platelet disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
351302017 Inherited platelet disorder en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
351302017 Inherited platelet disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
622793014 Inherited platelet disorder (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
622793014 Inherited platelet disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2535934017 Hereditary thrombocytopathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2535934017 Hereditary thrombocytopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2535935016 Hereditary platelet disorder en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2535935016 Hereditary platelet disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
345361000077116 anomalie plaquettaire héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
345361000077116 anomalie plaquettaire héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

67 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Inherited platelet disorder Is a Platelet disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Inherited platelet disorder Finding site Platelet (cell structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Inherited platelet disorder Finding site Hematopoietic system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Inherited platelet disorder Finding site Hematopoietic system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Inherited platelet disorder Is a Hereditary disorder of cellular element of blood false Inferred relationship Existential restriction modifier (core metadata concept)
Inherited platelet disorder Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Inherited platelet disorder Has definitional manifestation Platelet finding false Inferred relationship Existential restriction modifier (core metadata concept)
Inherited platelet disorder Has definitional manifestation Hemostatic system finding (finding) false Inferred relationship Existential restriction modifier (core metadata concept)
Inherited platelet disorder Is a Hereditary disease false Inferred relationship Existential restriction modifier (core metadata concept)
Inherited platelet disorder Is a Hereditary disorder of cellular element of blood true Inferred relationship Existential restriction modifier (core metadata concept)
Inherited platelet disorder Finding site Body system structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inherited platelet disorder Has interpretation Abnormal true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inherited platelet disorder Interprets Hemostatic function true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Platelet membrane defect (disorder) Is a True Inherited platelet disorder Inferred relationship Existential restriction modifier (core metadata concept)
Thromboxane generation defect Is a True Inherited platelet disorder Inferred relationship Existential restriction modifier (core metadata concept)
Giant platelet syndrome Is a True Inherited platelet disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary platelet function disorder (disorder) Is a True Inherited platelet disorder Inferred relationship Existential restriction modifier (core metadata concept)
May Hegglin syndrome Is a False Inherited platelet disorder Inferred relationship Existential restriction modifier (core metadata concept)
syndrome d'Epstein Is a False Inherited platelet disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary thrombocytopenic disorder (disorder) Is a True Inherited platelet disorder Inferred relationship Existential restriction modifier (core metadata concept)
Upshaw-Schulman syndrome (disorder) Is a True Inherited platelet disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial thrombocytosis (disorder) Is a True Inherited platelet disorder Inferred relationship Existential restriction modifier (core metadata concept)
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome Is a True Inherited platelet disorder Inferred relationship Existential restriction modifier (core metadata concept)
Revesz syndrome (disorder) Is a True Inherited platelet disorder Inferred relationship Existential restriction modifier (core metadata concept)
WT limb blood syndrome (disorder) Is a True Inherited platelet disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ataxia pancytopenia syndrome (disorder) Is a True Inherited platelet disorder Inferred relationship Existential restriction modifier (core metadata concept)
Thrombocythemia with distal limb defect Is a True Inherited platelet disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic hematologic disorder characterized by progressive trilineage bone marrow failure (with hypocellularity), developmental delay with learning disabilities and microcephaly. Mild facial dysmorphism and hypotonia have also been reported. There is evidence the disease is caused by homozygous mutation in the ERCC6L2 gene on chromosome 9q22. Is a True Inherited platelet disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary isolated aplastic anemia Is a True Inherited platelet disorder Inferred relationship Existential restriction modifier (core metadata concept)
Aplastic anemia, intellectual disability, dwarfism syndrome (disorder) Is a True Inherited platelet disorder Inferred relationship Existential restriction modifier (core metadata concept)

Reference Sets

Description inactivation indicator reference set

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