52951008: Congenital dyserythropoietic anemia (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Measurement finding\Finding of substance level\Protein level - finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Congenital dyserythropoietic anaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Red blood cell count outside reference range\RBC count low\Congenital anaemia\Congenital dyserythropoietic anaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Congenital anaemia\Congenital dyserythropoietic anaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Haemoglobin low\Congenital anaemia\Congenital dyserythropoietic anaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\RBC count low\Congenital anaemia\Congenital dyserythropoietic anaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Congenital dyserythropoietic anaemia
\Evaluation finding\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\RBC count low\Congenital anaemia\Congenital dyserythropoietic anaemia
\Evaluation finding\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Congenital dyserythropoietic anaemia
\Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Congenital dyserythropoietic anaemia

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

\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Congenital dyserythropoietic anaemia

\Anaemia\Congenital anaemia\Congenital dyserythropoietic anaemia
\Anaemia\Anaemia due to decreased red cell production\Congenital dyserythropoietic anaemia

\Red blood cell disorder\Hereditary red blood cell disorder\Congenital dyserythropoietic anaemia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Congenital dyserythropoietic anaemia
\Disease\Blood disease\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Congenital dyserythropoietic anaemia
\Disease\Blood disease\Anaemia\Congenital anaemia\Congenital dyserythropoietic anaemia
\Disease\Blood disease\Anaemia\Anaemia due to decreased red cell production\Congenital dyserythropoietic anaemia
\Disease\Blood disease\Red blood cell disorder\Hereditary red blood cell disorder\Congenital dyserythropoietic anaemia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Congenital dyserythropoietic anaemia
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder\Congenital dyserythropoietic anaemia
\Disease\Congenital disease\Congenital anaemia\Congenital dyserythropoietic anaemia

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1216715018 CDA - Congenital dyserythropoietic anaemia en Synonym Active Case sensitive SNOMED CT core
1218205018 CDA - Congenital dyserythropoietic anemia en Synonym Active Case sensitive SNOMED CT core
496498015 Congenital dyserythropoietic anaemia en Synonym Active Case insensitive SNOMED CT core
791017014 Congenital dyserythropoietic anemia (disorder) en Fully specified name Active Case insensitive SNOMED CT core
88102013 Congenital dyserythropoietic anemia en Synonym Active Case insensitive SNOMED CT core
88103015 Congenital dyserythropoietic anemia, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
88104014 CDA, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
88105010 CDA en Synonym Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital dyserythropoietic anaemia	Has definitional manifestation	Decreased erythrocyte production	false	Inferred relationship	Some
Congenital dyserythropoietic anaemia	Has definitional manifestation	Erythropenia	false	Inferred relationship	Some
Congenital dyserythropoietic anaemia	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
Congenital dyserythropoietic anaemia	Is a	Anaemia due to decreased red cell production	true	Inferred relationship	Some
Congenital dyserythropoietic anaemia	Is a	Congenital anaemia	true	Inferred relationship	Some
Congenital dyserythropoietic anaemia	Is a	Hereditary disease	false	Inferred relationship	Some
Congenital dyserythropoietic anaemia	Due to	Decreased erythrocyte production	true	Inferred relationship	Some	5
Congenital dyserythropoietic anaemia	Is a	Hereditary red blood cell disorder	true	Inferred relationship	Some
Congenital dyserythropoietic anaemia	Finding site	Erythrocyte	true	Inferred relationship	Some	4
Congenital dyserythropoietic anaemia	Occurrence	Congenital	true	Inferred relationship	Some	3
Congenital dyserythropoietic anaemia	Interprets	Decreased erythrocyte production	false	Inferred relationship	Some
Congenital dyserythropoietic anaemia	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
Congenital dyserythropoietic anaemia	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Congenital dyserythropoietic anaemia	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Congenital dyserythropoietic anaemia	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	1
Congenital dyserythropoietic anaemia	Interprets	Red blood cell count	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia	Is a	True	Congenital dyserythropoietic anaemia	Inferred relationship	Some
Majeed syndrome	Is a	True	Congenital dyserythropoietic anaemia	Inferred relationship	Some
Congenital dyserythropoietic anaemia, type III	Is a	True	Congenital dyserythropoietic anaemia	Inferred relationship	Some
Congenital dyserythropoietic anaemia, type I	Is a	True	Congenital dyserythropoietic anaemia	Inferred relationship	Some
Congenital dyserythropoietic anaemia, type II	Is a	True	Congenital dyserythropoietic anaemia	Inferred relationship	Some
Congenital dyserythropoiesis NEC	Is a	False	Congenital dyserythropoietic anaemia	Inferred relationship	Some
Congenital dyserythropoietic anaemia type IV	Is a	True	Congenital dyserythropoietic anaemia	Inferred relationship	Some
X-linked congenital dyserythropoietic anaemia with thrombocytopenia	Is a	True	Congenital dyserythropoietic anaemia	Inferred relationship	Some
Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome	Is a	True	Congenital dyserythropoietic anaemia	Inferred relationship	Some

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
1216715018	CDA - Congenital dyserythropoietic anaemia	en	Synonym	Active	Case sensitive	SNOMED CT core
1218205018	CDA - Congenital dyserythropoietic anemia	en	Synonym	Active	Case sensitive	SNOMED CT core
496498015	Congenital dyserythropoietic anaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
791017014	Congenital dyserythropoietic anemia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
88102013	Congenital dyserythropoietic anemia	en	Synonym	Active	Case insensitive	SNOMED CT core
88103015	Congenital dyserythropoietic anemia, NOS	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
88104014	CDA, NOS	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
88105010	CDA	en	Synonym	Active	Case sensitive	SNOMED CT core