716336002: Congenital amegakaryocytic thrombocytopenia (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Congenital amegakaryocytic thrombocytopenia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Amegakaryocytic thrombocytopenia\Congenital amegakaryocytic thrombocytopenia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Congenital amegakaryocytic thrombocytopenia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Platelet count below reference range\Thrombocytopenia\Amegakaryocytic thrombocytopenia\Congenital amegakaryocytic thrombocytopenia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Congenital amegakaryocytic thrombocytopenia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Platelet count below reference range\Thrombocytopenia\Amegakaryocytic thrombocytopenia\Congenital amegakaryocytic thrombocytopenia
\Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Congenital amegakaryocytic thrombocytopenia
\Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Amegakaryocytic thrombocytopenia\Congenital amegakaryocytic thrombocytopenia
\Evaluation finding\Haematopoietic system finding\Haemostatic system finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Congenital amegakaryocytic thrombocytopenia
\Evaluation finding\Haematopoietic system finding\Haemostatic system finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Amegakaryocytic thrombocytopenia\Congenital amegakaryocytic thrombocytopenia

\Finding of blood, lymphatics and immune system\Blood disease\Platelet disorder\Thrombocytopenia\...

\Congenital thrombocytopenia\Congenital amegakaryocytic thrombocytopenia

\Amegakaryocytic thrombocytopenia\Congenital amegakaryocytic thrombocytopenia

\Functional finding\Disorder of haemostatic system\Platelet disorder\Thrombocytopenia\...

\Congenital thrombocytopenia\Congenital amegakaryocytic thrombocytopenia

\Amegakaryocytic thrombocytopenia\Congenital amegakaryocytic thrombocytopenia

\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital amegakaryocytic thrombocytopenia
\Disease\Blood disease\Platelet disorder\Thrombocytopenia\Congenital thrombocytopenia\Congenital amegakaryocytic thrombocytopenia
\Disease\Blood disease\Platelet disorder\Thrombocytopenia\Amegakaryocytic thrombocytopenia\Congenital amegakaryocytic thrombocytopenia
\Disease\Disorder of haemostatic system\Platelet disorder\Thrombocytopenia\Congenital thrombocytopenia\Congenital amegakaryocytic thrombocytopenia
\Disease\Disorder of haemostatic system\Platelet disorder\Thrombocytopenia\Amegakaryocytic thrombocytopenia\Congenital amegakaryocytic thrombocytopenia
\Disease\Congenital disease\Congenital thrombocytopenia\Congenital amegakaryocytic thrombocytopenia

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3305550013 Congenital amegakaryocytic thrombocytopenia (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3305551012 Congenital amegakaryocytic thrombocytopenia en Synonym Active Case insensitive SNOMED CT core

3305552017 A rare inherited bone marrow failure syndrome with manifestation of 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. The exact prevalence is unknown and less than 100 cases have been reported in the literature. The inheritance pattern is autosomal recessive. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital amegakaryocytic thrombocytopenia	Interprets	Haemostatic function	false	Inferred relationship	Some	2
Congenital amegakaryocytic thrombocytopenia	Has interpretation	Abnormal	true	Inferred relationship	Some	2
Congenital amegakaryocytic thrombocytopenia	Interprets	Haemostatic function	true	Inferred relationship	Some	2
Congenital amegakaryocytic thrombocytopenia	Is a	Congenital disease	false	Inferred relationship	Some
Congenital amegakaryocytic thrombocytopenia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Congenital amegakaryocytic thrombocytopenia	Is a	Amegakaryocytic thrombocytopenia	true	Inferred relationship	Some
Congenital amegakaryocytic thrombocytopenia	Occurrence	Congenital	true	Inferred relationship	Some	3
Congenital amegakaryocytic thrombocytopenia	Has definitional manifestation	Platelet count below reference range	false	Inferred relationship	Some
Congenital amegakaryocytic thrombocytopenia	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Congenital amegakaryocytic thrombocytopenia	Interprets	Platelet count	true	Inferred relationship	Some	1
Congenital amegakaryocytic thrombocytopenia	Is a	Congenital thrombocytopenia	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3305550013	Congenital amegakaryocytic thrombocytopenia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3305551012	Congenital amegakaryocytic thrombocytopenia	en	Synonym	Active	Case insensitive	SNOMED CT core
3305552017	A rare inherited bone marrow failure syndrome with manifestation of 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. The exact prevalence is unknown and less than 100 cases have been reported in the literature. The inheritance pattern is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core