438492008: Hereditary thrombocytopenic disorder (disorder)

SNOMED CT Concept\constatation clinique\...

\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Platelet count abnormal\Platelet count below reference range (finding)\trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\cytopénie (constatation)\Platelet count below reference range (finding)\trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\cytopénie (constatation)\Platelet count below reference range (finding)\trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)
\Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range (finding)\trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)
\Evaluation finding\Hematopoietic system finding\constatation sur le système hémostatique\Platelet count - finding\Platelet count abnormal\Platelet count below reference range (finding)\trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)

\constatation à propos du sang, des lymphatiques et du système immunitaire\anomalie des éléments figurés du sang (trouble)\...

\troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)

\Platelet disorder\trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)
\Platelet disorder\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)

\constatation fonctionnelle\Disorder of haemostatic system\Platelet disorder\...

\trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)

\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)
\Disease\anomalie des éléments figurés du sang (trouble)\troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)
\Disease\anomalie des éléments figurés du sang (trouble)\Platelet disorder\trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)
\Disease\anomalie des éléments figurés du sang (trouble)\Platelet disorder\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)
\Disease\Disorder of haemostatic system\Platelet disorder\trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)
\Disease\Disorder of haemostatic system\Platelet disorder\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2009. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2788589014 Hereditary thrombocytopenic disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2790581011 Hereditary thrombocytopenic disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary thrombocytopenic disorder (disorder)	a pour interprétation (attribut)	anormal	false	Inferred relationship	Some	3
Hereditary thrombocytopenic disorder (disorder)	interprète (attribut)	Hemostatic function (observable entity)	false	Inferred relationship	Some	3
Hereditary thrombocytopenic disorder (disorder)	a pour interprétation (attribut)	anormal	true	Inferred relationship	Some	3
Hereditary thrombocytopenic disorder (disorder)	interprète (attribut)	Hemostatic function (observable entity)	true	Inferred relationship	Some	3
Hereditary thrombocytopenic disorder (disorder)	est un(e) (attribut)	anomalie plaquettaire héréditaire	true	Inferred relationship	Some
Hereditary thrombocytopenic disorder (disorder)	est un(e) (attribut)	trouble thrombocytopénique	true	Inferred relationship	Some
Hereditary thrombocytopenic disorder (disorder)	est défini par la manifestation de (attribut)	Platelet count below reference range (finding)	false	Inferred relationship	Some
Hereditary thrombocytopenic disorder (disorder)	localisation d'une constatation (attribut)	structure d'un système corporel	true	Inferred relationship	Some	2
Hereditary thrombocytopenic disorder (disorder)	a pour interprétation (attribut)	au-dessous de l'étendue de référence	true	Inferred relationship	Some	1
Hereditary thrombocytopenic disorder (disorder)	interprète (attribut)	Platelet count	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
May-Hegglin anomaly	est un(e) (attribut)	False	Hereditary thrombocytopenic disorder (disorder)	Inferred relationship	Some
Hereditary thrombocytopenia with normal platelets	est un(e) (attribut)	True	Hereditary thrombocytopenic disorder (disorder)	Inferred relationship	Some
X-linked thrombocytopenia with normal platelets (disorder)	est un(e) (attribut)	True	Hereditary thrombocytopenic disorder (disorder)	Inferred relationship	Some
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome	est un(e) (attribut)	True	Hereditary thrombocytopenic disorder (disorder)	Inferred relationship	Some
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome	est un(e) (attribut)	True	Hereditary thrombocytopenic disorder (disorder)	Inferred relationship	Some
Hereditary thrombocytopenia with early-onset myelofibrosis	est un(e) (attribut)	True	Hereditary thrombocytopenic disorder (disorder)	Inferred relationship	Some
Autosomal dominant thrombocytopenia with platelet secretion defect	est un(e) (attribut)	True	Hereditary thrombocytopenic disorder (disorder)	Inferred relationship	Some
Severe autosomal recessive macrothrombocytopenia (disorder)	est un(e) (attribut)	True	Hereditary thrombocytopenic disorder (disorder)	Inferred relationship	Some
Congenital autosomal recessive small-platelet thrombocytopenia (disorder)	est un(e) (attribut)	True	Hereditary thrombocytopenic disorder (disorder)	Inferred relationship	Some
Radial aplasia-thrombocytopenia syndrome	est un(e) (attribut)	True	Hereditary thrombocytopenic disorder (disorder)	Inferred relationship	Some
Epstein syndrome	est un(e) (attribut)	False	Hereditary thrombocytopenic disorder (disorder)	Inferred relationship	Some
syndrome de Bernard-Soulier (trouble)	est un(e) (attribut)	True	Hereditary thrombocytopenic disorder (disorder)	Inferred relationship	Some
Congenital dysmegakaryopoietic thrombocytopenia, Paris Trousseau type (disorder)	est un(e) (attribut)	True	Hereditary thrombocytopenic disorder (disorder)	Inferred relationship	Some
syndrome de Wiskott-Aldrich (trouble)	est un(e) (attribut)	True	Hereditary thrombocytopenic disorder (disorder)	Inferred relationship	Some
anémie de Fanconi (trouble)	est un(e) (attribut)	True	Hereditary thrombocytopenic disorder (disorder)	Inferred relationship	Some
MYH9 related disease	est un(e) (attribut)	False	Hereditary thrombocytopenic disorder (disorder)	Inferred relationship	Some
DK phocomelia syndrome (disorder)	est un(e) (attribut)	True	Hereditary thrombocytopenic disorder (disorder)	Inferred relationship	Some
MYH9 macrothrombocytopenia syndrome (disorder)	est un(e) (attribut)	False	Hereditary thrombocytopenic disorder (disorder)	Inferred relationship	Some
macrothrombocytopénie autosomique dominant	est un(e) (attribut)	True	Hereditary thrombocytopenic disorder (disorder)	Inferred relationship	Some
X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)	est un(e) (attribut)	True	Hereditary thrombocytopenic disorder (disorder)	Inferred relationship	Some
Thyrocerebrorenal syndrome	est un(e) (attribut)	True	Hereditary thrombocytopenic disorder (disorder)	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
2788589014	Hereditary thrombocytopenic disorder (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2790581011	Hereditary thrombocytopenic disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core