737221003: Congenital 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\Congenital thrombocytopenia (disorder)

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

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

\Functional finding\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital thrombocytopenia (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)

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 thrombocytopenia (disorder)	Is a	Congenital disease	true	Inferred relationship	Some
Congenital thrombocytopenia (disorder)	Is a	Thrombocytopenic disorder	true	Inferred relationship	Some
Congenital thrombocytopenia (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital thrombocytopenia (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Congenital thrombocytopenia (disorder)	Interprets	Platelet count	true	Inferred relationship	Some	2
Congenital thrombocytopenia (disorder)	Has interpretation	Abnormal	false	Inferred relationship	Some	3
Congenital thrombocytopenia (disorder)	Interprets	Hemostatic function	true	Inferred relationship	Some	3
Congenital thrombocytopenia (disorder)	Has interpretation	Abnormal	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Fanconi's anemia	Is a	False	Congenital thrombocytopenia (disorder)	Inferred relationship	Some
Wiskott-Aldrich syndrome	Is a	True	Congenital thrombocytopenia (disorder)	Inferred relationship	Some
Radial aplasia-thrombocytopenia syndrome	Is a	True	Congenital thrombocytopenia (disorder)	Inferred relationship	Some
purpura thrombopénique congénital	Is a	False	Congenital thrombocytopenia (disorder)	Inferred relationship	Some
Amegakaryocytic thrombocytopenia with congenital malformation	Is a	True	Congenital thrombocytopenia (disorder)	Inferred relationship	Some
Thrombocytopathy, asplenia and miosis (disorder)	Is a	True	Congenital thrombocytopenia (disorder)	Inferred relationship	Some
An isolated constitutional thrombocytopenia characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.	Is a	True	Congenital thrombocytopenia (disorder)	Inferred relationship	Some
Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia.	Is a	True	Congenital thrombocytopenia (disorder)	Inferred relationship	Some
A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.	Is a	True	Congenital thrombocytopenia (disorder)	Inferred relationship	Some
Thrombocytopenia with congenital dyserythropoietic anemia is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia.	Is a	True	Congenital thrombocytopenia (disorder)	Inferred relationship	Some
A rare syndromic renal disorder characterized by renal, neurologic and thyroid disease, associated with thrombocytopenia. There have been no further descriptions in the literature since 1978.	Is a	True	Congenital thrombocytopenia (disorder)	Inferred relationship	Some
Constitutional aplastic anemia	Is a	True	Congenital thrombocytopenia (disorder)	Inferred relationship	Some
Kasabach-Merritt syndrome	Is a	True	Congenital thrombocytopenia (disorder)	Inferred relationship	Some
A rare, genetic, isolated constitutional thrombocytopenia disease characterized by impaired platelet aggregation resulting from a defect in thromboxane synthesis or signaling, manifesting with mild to moderate mucocutaneous, gastrointestinal or surgical bleeding (e.g. easy bruising, prolonged epistaxis, excessive bleeding after a tooth extraction).	Is a	True	Congenital thrombocytopenia (disorder)	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	Congenital thrombocytopenia (disorder)	Inferred relationship	Some
A rare isolated constitutional thrombocytopenia characterized by neonatal onset of small-platelet thrombocytopenia with significantly increased bleeding tendency. Bleeding symptoms include petechial rash, mucosal bleeding, and heavy menstrual bleeding. Growth and development are normal, and there is no increased susceptibility to infections.	Is a	True	Congenital thrombocytopenia (disorder)	Inferred relationship	Some
A rare lymphatic system anomaly characterized by multifocal congenital and progressive vascular lesions of the skin, gastrointestinal tract, and occasionally other anatomic sites, causing potentially life-threatening thrombocytopenic coagulopathy. Macroscopically, the lesions appear as round to oval, red-brown plaques, as large as a few centimeters in diameter. Histopathologically, they consist of dilated, thin-walled vessels with variable endothelial hyperplasia, positive for lymphatic endothelial cell markers, and resembling benign lymphangioendothelioma.	Is a	True	Congenital thrombocytopenia (disorder)	Inferred relationship	Some
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 thrombocytopenia (disorder)	Inferred relationship	Some
Autosomal recessive combined immunodeficiency due to Wiskott Aldrich syndrome protein-interacting protein deficiency (disorder)	Is a	True	Congenital thrombocytopenia (disorder)	Inferred relationship	Some
Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect	Is a	True	Congenital thrombocytopenia (disorder)	Inferred relationship	Some

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
953901000195110	trombocitopenia congenita	it	Synonym (core metadata concept)	Active	Entire term case sensitive (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
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