34925000: Megaloblastic anemia due to inborn errors of metabolism (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\Megaloblastic anaemia due to inborn errors of metabolism
\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\Megaloblastic anaemia due to inborn errors of metabolism
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Congenital anaemia\Megaloblastic anaemia due to inborn errors of metabolism
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Haemoglobin low\Congenital anaemia\Megaloblastic anaemia due to inborn errors of metabolism
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\RBC count low\Congenital anaemia\Megaloblastic anaemia due to inborn errors of metabolism
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Megaloblastic anaemia due to inborn errors of metabolism
\Evaluation finding\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\RBC count low\Congenital anaemia\Megaloblastic anaemia due to inborn errors of metabolism
\Evaluation finding\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Megaloblastic anaemia due to inborn errors of metabolism
\Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Megaloblastic anaemia due to inborn errors of metabolism

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

\Anaemia related to disturbed DNA synthesis\Megaloblastic anaemia\Megaloblastic anaemia due to inborn errors of metabolism

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

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

\Disease\Blood disease\Anaemia\Anaemia related to disturbed DNA synthesis\Megaloblastic anaemia\Megaloblastic anaemia due to inborn errors of metabolism
\Disease\Blood disease\Anaemia\Macrocytic anaemia\Megaloblastic anaemia\Megaloblastic anaemia due to inborn errors of metabolism
\Disease\Blood disease\Anaemia\Congenital anaemia\Megaloblastic anaemia due to inborn errors of metabolism
\Disease\Congenital disease\Congenital anaemia\Megaloblastic anaemia due to inborn errors of metabolism

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

Descriptions:

Id Description Lang Type Status Case? Module

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

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital megaloblastic anaemia due to transcobalamin II deficiency	Is a	True	Megaloblastic anaemia due to inborn errors of metabolism	Inferred relationship	Some
Thiamine-responsive megaloblastic anaemia	Is a	True	Megaloblastic anaemia due to inborn errors of metabolism	Inferred relationship	Some
Familial megaloblastic anaemia	Is a	True	Megaloblastic anaemia due to inborn errors of metabolism	Inferred relationship	Some
Megaloblastic anaemia due to error of folate metabolism	Is a	True	Megaloblastic anaemia due to inborn errors of metabolism	Inferred relationship	Some
Juvenile type megaloblastic anaemia	Is a	True	Megaloblastic anaemia due to inborn errors of metabolism	Inferred relationship	Some
Megaloblastic anaemia due to congenital deficiency of intrinsic factor	Is a	True	Megaloblastic anaemia due to inborn errors of metabolism	Inferred relationship	Some
Megaloblastic anaemia due to error of cobalamin metabolism	Is a	True	Megaloblastic anaemia due to inborn errors of metabolism	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
486000012	Megaloblastic anaemia due to inborn errors of metabolism	en	Synonym	Active	Case insensitive	SNOMED CT core
486001011	Congenital pernicious anaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
58281018	Megaloblastic anemia due to inborn errors of metabolism	en	Synonym	Active	Case insensitive	SNOMED CT core
58282013	Megaloblastic anemia due to inborn errors of metabolism, NOS	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
58283015	Congenital pernicious anemia, NOS	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
58284014	Congenital pernicious anemia	en	Synonym	Active	Case insensitive	SNOMED CT core
766506014	Megaloblastic anemia due to inborn errors of metabolism (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core