234483004: Megakaryocytic thrombocytopenia (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Megakaryocytic thrombocytopenia

\Procedure related finding\Evaluation finding\...

\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Megakaryocytic thrombocytopenia
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Megakaryocytic thrombocytopenia
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Megakaryocytic thrombocytopenia
\Measurement finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Megakaryocytic thrombocytopenia

\Hematopoietic system finding\Hemostatic system finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Megakaryocytic thrombocytopenia

\Functional finding\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Megakaryocytic thrombocytopenia

\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Megakaryocytic thrombocytopenia
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Megakaryocytic thrombocytopenia

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

351317018 Megakaryocytic thrombocytopenia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

622809013 Megakaryocytic thrombocytopenia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6371721000241111 thrombocytopénie mégacaryocytaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Megakaryocytic thrombocytopenia	Is a	Thrombocytopenic disorder	true	Inferred relationship	Some
Megakaryocytic thrombocytopenia	Finding site	Platelet	false	Inferred relationship	Some
Megakaryocytic thrombocytopenia	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Megakaryocytic thrombocytopenia	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Megakaryocytic thrombocytopenia	Has definitional manifestation	Platelet count below reference range (finding)	false	Inferred relationship	Some
Megakaryocytic thrombocytopenia	Finding site	Body system structure	false	Inferred relationship	Some
Megakaryocytic thrombocytopenia	Has definitional manifestation	Hemostatic system finding	false	Inferred relationship	Some
Megakaryocytic thrombocytopenia	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Megakaryocytic thrombocytopenia	Interprets	Platelet count	true	Inferred relationship	Some	1
Megakaryocytic thrombocytopenia	Interprets	Hemostatic function	false	Inferred relationship	Some	2
Megakaryocytic thrombocytopenia	Has interpretation	Abnormal	true	Inferred relationship	Some	2
Megakaryocytic thrombocytopenia	Interprets	Hemostatic function	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
May-Hegglin anomaly	Is a	False	Megakaryocytic thrombocytopenia	Inferred relationship	Some
syndrome d'Epstein	Is a	False	Megakaryocytic thrombocytopenia	Inferred relationship	Some
Montreal platelet syndrome (disorder)	Is a	True	Megakaryocytic thrombocytopenia	Inferred relationship	Some
Mediterranean thrombocytopenia	Is a	True	Megakaryocytic thrombocytopenia	Inferred relationship	Some
MYH9 macrothrombocytopenia syndrome	Is a	False	Megakaryocytic thrombocytopenia	Inferred relationship	Some
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, intellectual disability, macrothrombocytopenia, lymphedema, and dysmorphic facial features (like synophrys, ptosis, eversion of the lateral portion of the lower eyelid, and thin upper lip, among others). Additional reported manifestations include cardiac and genitourinary anomalies, sensorineural hearing loss, ophthalmologic abnormalities, skeletal anomalies, and immunodeficiency. Brain imaging may show enlarged ventricles, cerebellar atrophy, or white matter changes.	Is a	True	Megakaryocytic thrombocytopenia	Inferred relationship	Some

This concept is not in any reference sets