44641000: Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)

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

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to triosephosphate isomerase deficiency
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Anemia\Anaemia due to metabolic disorder\Anemia due to enzymopathy (disorder)\Anemia due to enzyme deficiency\HNSHA due to triosephosphate isomerase deficiency
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA due to triosephosphate isomerase deficiency
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to triosephosphate isomerase deficiency
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA due to triosephosphate isomerase deficiency
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to triosephosphate isomerase deficiency
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to triosephosphate isomerase deficiency
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Erythrocyte enzyme deficiency\HNSHA due to triosephosphate isomerase deficiency
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Haemolysis\Hemolytic disorder\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA due to triosephosphate isomerase deficiency
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Haemolysis\Hemolytic disorder\Hemolytic anemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to triosephosphate isomerase deficiency

\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)\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to triosephosphate isomerase deficiency
\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\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA due to triosephosphate isomerase deficiency
\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\Hemolytic anemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to triosephosphate isomerase deficiency
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA due to triosephosphate isomerase deficiency
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Hemolytic anemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to triosephosphate isomerase deficiency
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to triosephosphate isomerase deficiency
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA due to triosephosphate isomerase deficiency
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Hemolytic anemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to triosephosphate isomerase deficiency
\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to triosephosphate isomerase deficiency
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA due to triosephosphate isomerase deficiency
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Hemolytic anemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to triosephosphate isomerase deficiency

\Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to triosephosphate isomerase deficiency
\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to triosephosphate isomerase deficiency

\Functional finding\Red blood cell destruction finding\Haemolysis\Hemolytic disorder\Hemolytic anemia\...

\Anemia due to enzyme deficiency\HNSHA due to triosephosphate isomerase deficiency

\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to triosephosphate isomerase deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to triosephosphate isomerase deficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder (disorder)\HNSHA due to triosephosphate isomerase deficiency
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to triosephosphate isomerase deficiency
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Anaemia due to metabolic disorder\Anemia due to enzymopathy (disorder)\Anemia due to enzyme deficiency\HNSHA due to triosephosphate isomerase deficiency
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA due to triosephosphate isomerase deficiency
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to triosephosphate isomerase deficiency
\Disease\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA due to triosephosphate isomerase deficiency
\Disease\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to triosephosphate isomerase deficiency
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to triosephosphate isomerase deficiency
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Erythrocyte enzyme deficiency\HNSHA due to triosephosphate isomerase deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to triosephosphate isomerase deficiency
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to triosephosphate isomerase deficiency
\Disease\Disorder of body system\Red blood cell disorder\Erythrocyte enzyme deficiency\HNSHA due to triosephosphate isomerase deficiency

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2003. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

74466015 HNSHA due to triosephosphate isomerase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

74467012 Triosephosphate deficiency anemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

493971019 Triosephosphate deficiency anaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2620827010 Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to triosephosphate isomerase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2620828017 Hereditary nonspherocytic hemolytic anemia (HNSHA) due to triosephosphate isomerase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2914313017 Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2914791016 Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3780589014 Hereditary nonspherocytic haemolytic anaemia due to triosephosphate isomerase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6250131000241110 anémie hémolytique héréditaire non sphérocytaire due à un déficit en triose phosphate isomérase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6250141000241117 anémie hémolytique héréditaire non sphérocytaire due à un déficit en TPI (triose phosphate isomérase) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
HNSHA due to triosephosphate isomerase deficiency	Is a	Congenital anomaly of the hematopoietic system	false	Inferred relationship	Some
HNSHA due to triosephosphate isomerase deficiency	Is a	Anemia due to enzyme deficiency	true	Inferred relationship	Some
HNSHA due to triosephosphate isomerase deficiency	Is a	Inborn error of metabolism	false	Inferred relationship	Some
HNSHA due to triosephosphate isomerase deficiency	Is a	Hereditary disorder of hematologic system	false	Inferred relationship	Some
HNSHA due to triosephosphate isomerase deficiency	Is a	Erythrocyte enzyme deficiency	true	Inferred relationship	Some
HNSHA due to triosephosphate isomerase deficiency	Is a	Autosomal dominant hereditary disorder (disorder)	true	Inferred relationship	Some
HNSHA due to triosephosphate isomerase deficiency	Finding site	Erythrocyte (cell)	true	Inferred relationship	Some	4
HNSHA due to triosephosphate isomerase deficiency	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
HNSHA due to triosephosphate isomerase deficiency	Occurrence	Congenital	false	Inferred relationship	Some
HNSHA due to triosephosphate isomerase deficiency	Is a	Hereditary nonspherocytic haemolytic anaemia	true	Inferred relationship	Some
HNSHA due to triosephosphate isomerase deficiency	Associated etiologic finding	Enzymopathy	false	Inferred relationship	Some
HNSHA due to triosephosphate isomerase deficiency	Associated etiologic finding	Triose phosphate isomerase deficiency	false	Inferred relationship	Some
HNSHA due to triosephosphate isomerase deficiency	Has definitional manifestation	érythropénie	false	Inferred relationship	Some
HNSHA due to triosephosphate isomerase deficiency	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
HNSHA due to triosephosphate isomerase deficiency	Due to	Triose phosphate isomerase deficiency	true	Inferred relationship	Some	5
HNSHA due to triosephosphate isomerase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
HNSHA due to triosephosphate isomerase deficiency	Has definitional manifestation	Haemolysis	false	Inferred relationship	Some
HNSHA due to triosephosphate isomerase deficiency	Has interpretation	Below reference range	true	Inferred relationship	Some	1
HNSHA due to triosephosphate isomerase deficiency	Interprets	Red blood cell count	true	Inferred relationship	Some	1
HNSHA due to triosephosphate isomerase deficiency	Has interpretation	Below reference range	true	Inferred relationship	Some	2
HNSHA due to triosephosphate isomerase deficiency	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	2
HNSHA due to triosephosphate isomerase deficiency	Interprets	Erythrocyte destruction	false	Inferred relationship	Some
HNSHA due to triosephosphate isomerase deficiency	Has interpretation	Present (qualifier value)	true	Inferred relationship	Some	3
HNSHA due to triosephosphate isomerase deficiency	Interprets	Hemolysis (observable entity)	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
74466015	HNSHA due to triosephosphate isomerase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
74467012	Triosephosphate deficiency anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
493971019	Triosephosphate deficiency anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2620827010	Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to triosephosphate isomerase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2620828017	Hereditary nonspherocytic hemolytic anemia (HNSHA) due to triosephosphate isomerase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2914313017	Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2914791016	Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3780589014	Hereditary nonspherocytic haemolytic anaemia due to triosephosphate isomerase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6250131000241110	anémie hémolytique héréditaire non sphérocytaire due à un déficit en triose phosphate isomérase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6250141000241117	anémie hémolytique héréditaire non sphérocytaire due à un déficit en TPI (triose phosphate isomérase)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module