52951008: Congenital dyserythropoietic anemia (disorder)

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

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\...

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

\Anaemia\Congenital anemia\Congenital dyserythropoietic anaemia
\Anaemia\Anemia due to decreased red cell production (disorder)\Congenital dyserythropoietic anaemia

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

\Procedure related finding\Evaluation finding\...

\Measurement finding\Finding of substance level (finding)\Finding of protein level (finding)\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia\Congenital dyserythropoietic anaemia
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range\Red blood cell count below reference range\Congenital anemia\Congenital dyserythropoietic anaemia
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Congenital anemia\Congenital dyserythropoietic anaemia
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital dyserythropoietic anaemia
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Congenital anemia\Congenital dyserythropoietic anaemia
\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia\Congenital dyserythropoietic anaemia
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\Red blood cell count below reference range\Congenital anemia\Congenital dyserythropoietic anaemia

\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia\Congenital dyserythropoietic anaemia
\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia\Congenital dyserythropoietic anaemia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Congenital dyserythropoietic anaemia
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital anemia\Congenital dyserythropoietic anaemia
\Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Congenital dyserythropoietic anaemia
\Disease\Disorder of cellular component of blood\Anaemia\Congenital anemia\Congenital dyserythropoietic anaemia
\Disease\Disorder of cellular component of blood\Anaemia\Anemia due to decreased red cell production (disorder)\Congenital dyserythropoietic anaemia
\Disease\Disorder of cellular component of blood\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Congenital dyserythropoietic anaemia
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Congenital dyserythropoietic anaemia
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Congenital dyserythropoietic anaemia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital dyserythropoietic anaemia	Is a	Anemia due to decreased red cell production (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dyserythropoietic anaemia	Is a	Congenital anemia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dyserythropoietic anaemia	Finding site	Erythrocyte	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Congenital dyserythropoietic anaemia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital dyserythropoietic anaemia	Interprets	Decreased erythrocyte production	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dyserythropoietic anaemia	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dyserythropoietic anaemia	Has definitional manifestation	Decreased erythrocyte production	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dyserythropoietic anaemia	Has definitional manifestation	érythropénie	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dyserythropoietic anaemia	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dyserythropoietic anaemia	Is a	Hereditary disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dyserythropoietic anaemia	Due to	Decreased erythrocyte production	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Congenital dyserythropoietic anaemia	Is a	Hereditary red blood cell disorder (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dyserythropoietic anaemia	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital dyserythropoietic anaemia	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital dyserythropoietic anaemia	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital dyserythropoietic anaemia	Interprets	Red blood cell count	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital dyserythropoietic anaemia, type III	Is a	True	Congenital dyserythropoietic anaemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dyserythropoietic anemia, type I	Is a	True	Congenital dyserythropoietic anaemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dyserythropoietic anemia, type II	Is a	True	Congenital dyserythropoietic anaemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dyserythropoiesis NEC	Is a	False	Congenital dyserythropoietic anaemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dyserythropoietic anemia type IV (disorder)	Is a	True	Congenital dyserythropoietic anaemia	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)	Is a	True	Congenital dyserythropoietic anaemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)	Is a	True	Congenital dyserythropoietic anaemia	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia (disorder)	Is a	True	Congenital dyserythropoietic anaemia	Inferred relationship	Existential restriction modifier (core metadata concept)
An extremely rare genetic multisystemic disorder with characteristics of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia, which may be accompanied by neutrophilic dermatosis. The disease can be associated with fever, joint pain, delayed bone age, growth failure, short adult stature, and development of flexion contractures. Other reported manifestations include failure to thrive, hepatomegaly, neutropenia, and transient cholestatic jaundice. The clinical course is chronic. Caused by a mutation in LPIN2 (18p11.31), which encodes phosphatidate phosphatase LPIN2 (Lipin-2), important in lipid metabolism. Follows an autosomal recessive pattern of inheritance.	Is a	True	Congenital dyserythropoietic anaemia	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
88102013	Congenital dyserythropoietic anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
496498015	Congenital dyserythropoietic anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
791017014	Congenital dyserythropoietic anemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5244035015	CDA - congenital dyserythropoietic anaemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5244036019	CDA - congenital dyserythropoietic anemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
88102013	Congenital dyserythropoietic anemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
88102013	Congenital dyserythropoietic anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
88105010	CDA	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
496498015	Congenital dyserythropoietic anaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
496498015	Congenital dyserythropoietic anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
791017014	Congenital dyserythropoietic anemia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
791017014	Congenital dyserythropoietic anemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1216715018	CDA - Congenital dyserythropoietic anaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1216715018	CDA - Congenital dyserythropoietic anaemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1218205018	CDA - Congenital dyserythropoietic anemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1218205018	CDA - Congenital dyserythropoietic anemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5244035015	CDA - congenital dyserythropoietic anaemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5244036019	CDA - congenital dyserythropoietic anemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3394691001000111	Anämie, dyserythropoetische kongenitale	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
886381000172115	CDA - congenital dyserythropoietic anemia	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
989861000172116	anémie dysérythropoïétique congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
886381000172115	CDA - congenital dyserythropoietic anemia	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
989861000172116	anémie dysérythropoïétique congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3394691001000111	Anämie, dyserythropoetische kongenitale	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module