59644002: hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van fosfoglyceraatkinase (aandoening)

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

\Laboratory test finding (finding)\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\HNSHA due to phosphoglycerate kinase deficiency

\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to phosphoglycerate kinase deficiency

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

\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\HNSHA due to phosphoglycerate kinase deficiency
\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to phosphoglycerate kinase deficiency

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

\Anemia due to enzyme deficiency\HNSHA due to phosphoglycerate kinase deficiency

\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to phosphoglycerate kinase 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 hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to phosphoglycerate kinase deficiency
\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\HNSHA due to phosphoglycerate kinase 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 phosphoglycerate kinase deficiency
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA due to phosphoglycerate kinase deficiency
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to phosphoglycerate kinase deficiency
\Disease\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Anemia due to enzyme deficiency\HNSHA due to phosphoglycerate kinase deficiency
\Disease\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to phosphoglycerate kinase deficiency
\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\HNSHA due to phosphoglycerate kinase deficiency
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Erythrocyte enzyme deficiency\HNSHA due to phosphoglycerate kinase deficiency
\Disease\Disorder of body system\Hematological disorder (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to phosphoglycerate kinase deficiency
\Disease\Disorder of body system\Hematological disorder (disorder)\Red blood cell disorder\Erythrocyte enzyme deficiency\HNSHA due to phosphoglycerate kinase 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 hemolytic anemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to phosphoglycerate kinase 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

198909017 HNSHA due to phosphoglycerate kinase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2620982017 Hereditary nonspherocytic hemolytic anemia (HNSHA) due to phosphoglycerate kinase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2620983010 Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to phosphoglycerate kinase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2913263018 Hereditary nonspherocytic hemolytic anemia due to phosphoglycerate kinase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2915032010 Hereditary nonspherocytic hemolytic anemia due to phosphoglycerate kinase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3780593015 Hereditary nonspherocytic haemolytic anaemia due to phosphoglycerate kinase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

211211000146111 erfelijke niet-sferocytaire hemolytische anemie door fosfoglyceraatkinasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

249891000146113 erfelijke niet-sferocytaire hemolytische anemie door deficiëntie van fosfoglyceraatkinase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8617751000146116 hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van fosfoglyceraatkinase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8669451000146117 hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van fosfoglyceraatkinase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
198909017	HNSHA due to phosphoglycerate kinase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2620982017	Hereditary nonspherocytic hemolytic anemia (HNSHA) due to phosphoglycerate kinase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2620983010	Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to phosphoglycerate kinase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2913263018	Hereditary nonspherocytic hemolytic anemia due to phosphoglycerate kinase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2915032010	Hereditary nonspherocytic hemolytic anemia due to phosphoglycerate kinase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3780593015	Hereditary nonspherocytic haemolytic anaemia due to phosphoglycerate kinase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
211211000146111	erfelijke niet-sferocytaire hemolytische anemie door fosfoglyceraatkinasedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
249891000146113	erfelijke niet-sferocytaire hemolytische anemie door deficiëntie van fosfoglyceraatkinase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8617751000146116	hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van fosfoglyceraatkinase (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8669451000146117	hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van fosfoglyceraatkinase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)