737221003: Congenital thrombocytopenia (disorder)

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

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopaenia

\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\Congenital thrombocytopaenia
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopaenia
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopaenia
\Measurement finding\Finding of platelet count (finding)\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopaenia

\Haematopoietic system finding\Hemostatic system finding (finding)\Finding of platelet count (finding)\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopaenia

\Functional finding\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopaenia

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital thrombocytopaenia
\Disease\Disorder of cellular component of blood\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopaenia
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopaenia

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2018. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital thrombocytopaenia	Is a	Congenital disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital thrombocytopaenia	Is a	Thrombocytopenic disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital thrombocytopaenia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital thrombocytopaenia	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital thrombocytopaenia	Interprets	Platelet count	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital thrombocytopaenia	Has interpretation	Abnormal	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital thrombocytopaenia	Interprets	Hemostatic function	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital thrombocytopaenia	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Fanconi's anemia	Is a	False	Congenital thrombocytopaenia	Inferred relationship	Existential restriction modifier (core metadata concept)
Wiskott-Aldrich syndrome	Is a	True	Congenital thrombocytopaenia	Inferred relationship	Existential restriction modifier (core metadata concept)
Radial aplasia-thrombocytopenia syndrome	Is a	True	Congenital thrombocytopaenia	Inferred relationship	Existential restriction modifier (core metadata concept)
purpura thrombopénique congénital	Is a	False	Congenital thrombocytopaenia	Inferred relationship	Existential restriction modifier (core metadata concept)
Amegakaryocytic thrombocytopenia with congenital malformation	Is a	True	Congenital thrombocytopaenia	Inferred relationship	Existential restriction modifier (core metadata concept)
Thrombocytopathy, asplenia and miosis (disorder)	Is a	True	Congenital thrombocytopaenia	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital amegakaryocytic thrombocytopenia (disorder)	Is a	True	Congenital thrombocytopaenia	Inferred relationship	Existential restriction modifier (core metadata concept)
DK phocomelia syndrome (disorder)	Is a	True	Congenital thrombocytopaenia	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.	Is a	True	Congenital thrombocytopaenia	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)	Is a	True	Congenital thrombocytopaenia	Inferred relationship	Existential restriction modifier (core metadata concept)
Thyrocerebrorenal syndrome	Is a	True	Congenital thrombocytopaenia	Inferred relationship	Existential restriction modifier (core metadata concept)
Constitutional aplastic anaemia	Is a	True	Congenital thrombocytopaenia	Inferred relationship	Existential restriction modifier (core metadata concept)
Kasabach-Merritt syndrome	Is a	True	Congenital thrombocytopaenia	Inferred relationship	Existential restriction modifier (core metadata concept)
Bleeding diathesis due to thromboxane synthesis deficiency (disorder)	Is a	True	Congenital thrombocytopaenia	Inferred relationship	Existential restriction modifier (core metadata concept)
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome (disorder)	Is a	True	Congenital thrombocytopaenia	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital autosomal recessive small-platelet thrombocytopenia (disorder)	Is a	True	Congenital thrombocytopaenia	Inferred relationship	Existential restriction modifier (core metadata concept)
Multifocal lymphangioendotheliomatosis, thrombocytopenia syndrome	Is a	True	Congenital thrombocytopaenia	Inferred relationship	Existential restriction modifier (core metadata concept)
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.	Is a	True	Congenital thrombocytopaenia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive combined immunodeficiency due to Wiskott Aldrich syndrome protein-interacting protein deficiency (disorder)	Is a	True	Congenital thrombocytopaenia	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)	Is a	True	Congenital thrombocytopaenia	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3527197016	Congenital thrombocytopenia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3527198014	Congenital thrombocytopenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3527199018	Congenital thrombocytopaenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3527197016	Congenital thrombocytopenia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3527198014	Congenital thrombocytopenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3527199018	Congenital thrombocytopaenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
953901000195110	trombocitopenia congenita	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
388351000274118	Angeborene Thrombozytopenie	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
448481000274115	Kongenitale Thrombozytopenie	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5856201000241119	thrombocytopénie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5856201000241119	thrombocytopénie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
953901000195110	trombocitopenia congenita	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
388351000274118	Angeborene Thrombozytopenie	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
448481000274115	Kongenitale Thrombozytopenie	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module