12907000: Thiamine-responsive megaloblastic 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\Megaloblastic anaemia due to inborn errors of metabolism\Thiamine-responsive megaloblastic 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\Megaloblastic anaemia due to inborn errors of metabolism\Thiamine-responsive megaloblastic anaemia
\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\Thiamine-responsive megaloblastic anaemia
\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\Thiamine-responsive megaloblastic anaemia
\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\Thiamine-responsive megaloblastic anaemia
\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\Thiamine-responsive megaloblastic anaemia
\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\Thiamine-responsive megaloblastic anaemia
\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\Thiamine-responsive megaloblastic anaemia
\Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Megaloblastic anaemia due to inborn errors of metabolism\Thiamine-responsive megaloblastic anaemia

\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\Thiamine-responsive megaloblastic anaemia

\Macrocytic anaemia\Megaloblastic anaemia\Megaloblastic anaemia due to inborn errors of metabolism\Thiamine-responsive megaloblastic anaemia

\Congenital anaemia\Megaloblastic anaemia due to inborn errors of metabolism\Thiamine-responsive megaloblastic anaemia

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

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

Descriptions:

Id Description Lang Type Status Case? Module

22131011 Thiamine-responsive megaloblastic anemia en Synonym Active Case insensitive SNOMED CT core
474727013 Thiamine-responsive megaloblastic anaemia en Synonym Active Case insensitive SNOMED CT core
733145011 Thiamine-responsive megaloblastic anemia (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Megaloblastic anaemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	Is a	True	Thiamine-responsive megaloblastic 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
22131011	Thiamine-responsive megaloblastic anemia	en	Synonym	Active	Case insensitive	SNOMED CT core
474727013	Thiamine-responsive megaloblastic anaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
733145011	Thiamine-responsive megaloblastic anemia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core