12907000: Thiamine-responsive megaloblastic anemia (disorder)

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

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

\Anemia related to disturbed DNA synthesis\Megaloblastic anemia\Megaloblastic anemia due to inborn errors of metabolism\Thiamine-responsive megaloblastic anemia

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

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

\Procedure related finding\Evaluation finding\...

\Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Megaloblastic anemia due to inborn errors of metabolism\Thiamine-responsive megaloblastic anemia
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Congenital anemia\Megaloblastic anemia due to inborn errors of metabolism\Thiamine-responsive megaloblastic anemia
\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\Thiamine-responsive megaloblastic anemia
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Megaloblastic anemia due to inborn errors of metabolism\Thiamine-responsive megaloblastic anemia
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Congenital anemia\Megaloblastic anemia due to inborn errors of metabolism\Thiamine-responsive megaloblastic anemia
\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Megaloblastic anemia due to inborn errors of metabolism\Thiamine-responsive megaloblastic anemia
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Congenital anemia\Megaloblastic anemia due to inborn errors of metabolism\Thiamine-responsive megaloblastic anemia

\Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Megaloblastic anemia due to inborn errors of metabolism\Thiamine-responsive megaloblastic anemia
\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Megaloblastic anemia due to inborn errors of metabolism\Thiamine-responsive megaloblastic anemia

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital anemia\Megaloblastic anemia due to inborn errors of metabolism\Thiamine-responsive megaloblastic anemia
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Anemia related to disturbed DNA synthesis\Megaloblastic anemia\Megaloblastic anemia due to inborn errors of metabolism\Thiamine-responsive megaloblastic anemia
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Macrocytic anemia\Megaloblastic anemia\Megaloblastic anemia due to inborn errors of metabolism\Thiamine-responsive megaloblastic anemia
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Congenital anemia\Megaloblastic anemia due to inborn errors of metabolism\Thiamine-responsive megaloblastic anemia

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

Descriptions:

Id Description Lang Type Status Case? Module

22131011 Thiamine-responsive megaloblastic anemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

474727013 Thiamine-responsive megaloblastic anaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

733145011 Thiamine-responsive megaloblastic anemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4432071000241117 anémie mégaloblastique thiamine dépendante fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Megaloblastic anaemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	Is a	True	Thiamine-responsive megaloblastic anemia	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
22131011	Thiamine-responsive megaloblastic anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
474727013	Thiamine-responsive megaloblastic anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
733145011	Thiamine-responsive megaloblastic anemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4432071000241117	anémie mégaloblastique thiamine dépendante	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module