34925000: Megaloblastic anemia due to inborn errors of metabolism (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Measurement finding\Finding of substance level\Finding of protein level\Hemoglobin finding\Hemoglobin level outside reference range\Hemoglobin below reference range\Congenital anemia\Megaloblastic anemia due to inborn errors of metabolism
\Evaluation finding\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\Megaloblastic anemia due to inborn errors of metabolism
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Congenital anemia\Megaloblastic anemia due to inborn errors of metabolism
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Hemoglobin below reference range\Congenital anemia\Megaloblastic anemia due to inborn errors of metabolism
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Red blood cell count below reference range\Congenital anemia\Megaloblastic anemia due to inborn errors of metabolism
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range\Hemoglobin below reference range\Congenital anemia\Megaloblastic anemia due to inborn errors of metabolism
\Evaluation finding\Measurement finding\Finding of red blood cell count\Red blood cell count outside reference range\Red blood cell count below reference range\Congenital anemia\Megaloblastic anemia due to inborn errors of metabolism
\Evaluation finding\Hematopoietic system finding\Hematology test outside reference range\Hemoglobin level outside reference range\Hemoglobin below reference range\Congenital anemia\Megaloblastic anemia due to inborn errors of metabolism
\Evaluation finding\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range\Hemoglobin below reference range\Congenital anemia\Megaloblastic anemia due to inborn errors of metabolism

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

\Anemia related to disturbed deoxyribonucleic acid synthesis\Megaloblastic anemia\Megaloblastic anemia due to inborn errors of metabolism

\Macrocytic anemia\Megaloblastic anemia\Megaloblastic anemia due to inborn errors of metabolism

\Congenital anemia\Megaloblastic anemia due to inborn errors of metabolism

\Disease\Disorder of cellular component of blood\Anemia\Anemia related to disturbed deoxyribonucleic acid synthesis\Megaloblastic anemia\Megaloblastic anemia due to inborn errors of metabolism
\Disease\Disorder of cellular component of blood\Anemia\Macrocytic anemia\Megaloblastic anemia\Megaloblastic anemia due to inborn errors of metabolism
\Disease\Disorder of cellular component of blood\Anemia\Congenital anemia\Megaloblastic anemia due to inborn errors of metabolism
\Disease\Congenital disease\Congenital anemia\Megaloblastic anemia due to inborn errors of metabolism

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

Descriptions:

Id Description Lang Type Status Case? Module

58281018 Megaloblastic anemia due to inborn errors of metabolism en Synonym Active Entire term case insensitive SNOMED CT core module
58282013 Megaloblastic anemia due to inborn errors of metabolism, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
58283015 Congenital pernicious anemia, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
58284014 Congenital pernicious anemia en Synonym Active Entire term case insensitive SNOMED CT core module
486000012 Megaloblastic anaemia due to inborn errors of metabolism en Synonym Active Entire term case insensitive SNOMED CT core module
486001011 Congenital pernicious anaemia en Synonym Active Entire term case insensitive SNOMED CT core module
766506014 Megaloblastic anemia due to inborn errors of metabolism (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Megaloblastic anemia due to inborn errors of metabolism	Is a	Congenital anemia	true	Inferred relationship	Existential restriction modifier
Megaloblastic anemia due to inborn errors of metabolism	Is a	Megaloblastic anemia	true	Inferred relationship	Existential restriction modifier
Megaloblastic anemia due to inborn errors of metabolism	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier
Megaloblastic anemia due to inborn errors of metabolism	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Megaloblastic anemia due to inborn errors of metabolism	Finding site	Erythrocyte	false	Inferred relationship	Existential restriction modifier
Megaloblastic anemia due to inborn errors of metabolism	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier
Megaloblastic anemia due to inborn errors of metabolism	Has definitional manifestation	Erythropenia	false	Inferred relationship	Existential restriction modifier
Megaloblastic anemia due to inborn errors of metabolism	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	1
Megaloblastic anemia due to inborn errors of metabolism	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	2
Megaloblastic anemia due to inborn errors of metabolism	Interprets	Red blood cell count	true	Inferred relationship	Existential restriction modifier	1
Megaloblastic anemia due to inborn errors of metabolism	Interprets	Measurement of total hemoglobin concentration	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Thiamine-responsive megaloblastic anemia	Is a	True	Megaloblastic anemia due to inborn errors of metabolism	Inferred relationship	Existential restriction modifier
Familial megaloblastic anemia	Is a	True	Megaloblastic anemia due to inborn errors of metabolism	Inferred relationship	Existential restriction modifier
Megaloblastic anemia due to error of folate metabolism	Is a	True	Megaloblastic anemia due to inborn errors of metabolism	Inferred relationship	Existential restriction modifier
Juvenile type megaloblastic anemia	Is a	True	Megaloblastic anemia due to inborn errors of metabolism	Inferred relationship	Existential restriction modifier
Megaloblastic anemia due to congenital deficiency of intrinsic factor	Is a	True	Megaloblastic anemia due to inborn errors of metabolism	Inferred relationship	Existential restriction modifier
Megaloblastic anemia due to error of cobalamin metabolism	Is a	True	Megaloblastic anemia due to inborn errors of metabolism	Inferred relationship	Existential restriction modifier
Congenital megaloblastic anemia due to transcobalamin II deficiency	Is a	True	Megaloblastic anemia due to inborn errors of metabolism	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
58281018	Megaloblastic anemia due to inborn errors of metabolism	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
58282013	Megaloblastic anemia due to inborn errors of metabolism, NOS	en	Synonym	Inactive	Only initial character case insensitive	SNOMED CT core module
58283015	Congenital pernicious anemia, NOS	en	Synonym	Inactive	Only initial character case insensitive	SNOMED CT core module
58284014	Congenital pernicious anemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
486000012	Megaloblastic anaemia due to inborn errors of metabolism	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
486001011	Congenital pernicious anaemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
766506014	Megaloblastic anemia due to inborn errors of metabolism (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module