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 hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)
\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\Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Anemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Anemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)
\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 hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Erythrocyte enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Hemolysis\Hemolytic disorder\Hemolytic anemia\Anemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Hemolysis\Hemolytic disorder\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)

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

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

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

\Anemia due to enzyme deficiency\Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)

\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)

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

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

832001000052110 ärftlig icke-sfärocytär hemolytisk anemi orsakad av triosfosfatisomerasbrist sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)	Is a	Congenital anomaly of the hematopoietic system	false	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)	Is a	Anemia due to enzyme deficiency	true	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)	Is a	Inborn error of metabolism	false	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)	Is a	Hereditary disorder of hematologic system	false	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)	Is a	Erythrocyte enzyme deficiency	true	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)	Finding site	Erythrocyte	true	Inferred relationship	Some	4
Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)	Is a	Hereditary nonspherocytic haemolytic anaemia	true	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)	Associated etiologic finding	Enzymopathy	false	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)	Associated etiologic finding	Triose phosphate isomerase deficiency	false	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)	Has definitional manifestation	erytropeni	false	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)	Due to	Triose phosphate isomerase deficiency	true	Inferred relationship	Some	5
Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)	Finding site	Body system structure	false	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)	Has definitional manifestation	Hemolysis	false	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)	Interprets	Red blood cell count	true	Inferred relationship	Some	1
Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	2
Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)	Interprets	Erythrocyte destruction	false	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)	Has interpretation	Present	true	Inferred relationship	Some	3
Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)	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
832001000052110	ärftlig icke-sfärocytär hemolytisk anemi orsakad av triosfosfatisomerasbrist	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)