62268000: Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency (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\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to diphosphoglycerate mutase deficiency
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Red blood cell count outside reference range\RBC count low\Haemolytic anaemia\Anaemia due to enzyme deficiency\HNSHA due to diphosphoglycerate mutase deficiency
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Red blood cell count outside reference range\RBC count low\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to diphosphoglycerate mutase deficiency
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Haemolytic anaemia\Anaemia due to enzyme deficiency\HNSHA due to diphosphoglycerate mutase deficiency
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to diphosphoglycerate mutase deficiency
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Haemoglobin low\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to diphosphoglycerate mutase deficiency
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\RBC count low\Haemolytic anaemia\Anaemia due to enzyme deficiency\HNSHA due to diphosphoglycerate mutase deficiency
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\RBC count low\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to diphosphoglycerate mutase deficiency
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to diphosphoglycerate mutase deficiency
\Evaluation finding\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\RBC count low\Haemolytic anaemia\Anaemia due to enzyme deficiency\HNSHA due to diphosphoglycerate mutase deficiency
\Evaluation finding\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\RBC count low\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to diphosphoglycerate mutase deficiency
\Evaluation finding\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to diphosphoglycerate mutase deficiency
\Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to diphosphoglycerate mutase deficiency

\Finding of blood, lymphatics and immune system\Blood disease\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to diphosphoglycerate mutase deficiency
\Finding of blood, lymphatics and immune system\Blood disease\Anaemia\Anaemia due to metabolic disorder\Anaemia due to enzymopathy\Anaemia due to enzyme deficiency\HNSHA due to diphosphoglycerate mutase deficiency
\Finding of blood, lymphatics and immune system\Blood disease\Anaemia\Haemolytic anaemia\Anaemia due to enzyme deficiency\HNSHA due to diphosphoglycerate mutase deficiency
\Finding of blood, lymphatics and immune system\Blood disease\Anaemia\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to diphosphoglycerate mutase deficiency
\Finding of blood, lymphatics and immune system\Blood disease\Haemolytic disorder\Haemolytic anaemia\Anaemia due to enzyme deficiency\HNSHA due to diphosphoglycerate mutase deficiency
\Finding of blood, lymphatics and immune system\Blood disease\Haemolytic disorder\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to diphosphoglycerate mutase deficiency
\Finding of blood, lymphatics and immune system\Blood disease\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to diphosphoglycerate mutase deficiency
\Finding of blood, lymphatics and immune system\Blood disease\Red blood cell disorder\Erythrocyte enzyme deficiency\HNSHA due to diphosphoglycerate mutase deficiency
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Haemolysis\Haemolytic disorder\Haemolytic anaemia\Anaemia due to enzyme deficiency\HNSHA due to diphosphoglycerate mutase deficiency
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Haemolysis\Haemolytic disorder\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to diphosphoglycerate mutase deficiency

\Functional finding\Red blood cell destruction finding\Haemolysis\Haemolytic disorder\Haemolytic anaemia\...

\Anaemia due to enzyme deficiency\HNSHA due to diphosphoglycerate mutase deficiency

\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to diphosphoglycerate mutase deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to diphosphoglycerate mutase deficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\HNSHA due to diphosphoglycerate mutase deficiency
\Disease\Blood disease\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to diphosphoglycerate mutase deficiency
\Disease\Blood disease\Anaemia\Anaemia due to metabolic disorder\Anaemia due to enzymopathy\Anaemia due to enzyme deficiency\HNSHA due to diphosphoglycerate mutase deficiency
\Disease\Blood disease\Anaemia\Haemolytic anaemia\Anaemia due to enzyme deficiency\HNSHA due to diphosphoglycerate mutase deficiency
\Disease\Blood disease\Anaemia\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to diphosphoglycerate mutase deficiency
\Disease\Blood disease\Haemolytic disorder\Haemolytic anaemia\Anaemia due to enzyme deficiency\HNSHA due to diphosphoglycerate mutase deficiency
\Disease\Blood disease\Haemolytic disorder\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to diphosphoglycerate mutase deficiency
\Disease\Blood disease\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to diphosphoglycerate mutase deficiency
\Disease\Blood disease\Red blood cell disorder\Erythrocyte enzyme deficiency\HNSHA due to diphosphoglycerate mutase deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to diphosphoglycerate mutase deficiency
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to diphosphoglycerate mutase deficiency
\Disease\Disorder of body system\Red blood cell disorder\Erythrocyte enzyme deficiency\HNSHA due to diphosphoglycerate mutase deficiency

Status: current, Defined. Date: 31-Jan 2003. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

103490017 HNSHA due to diphosphoglycerate mutase deficiency en Synonym Active Case sensitive SNOMED CT core

2621004014 Hereditary nonspherocytic hemolytic anemia (HNSHA) due to diphosphoglycerate mutase deficiency en Synonym Active Initial character case insensitive SNOMED CT core

2621005010 Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to diphosphoglycerate mutase deficiency en Synonym Active Initial character case insensitive SNOMED CT core

2913737012 Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency en Synonym Active Case insensitive SNOMED CT core

2914465016 Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3780588018 Hereditary nonspherocytic haemolytic anaemia due to diphosphoglycerate mutase deficiency en Synonym Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
HNSHA due to diphosphoglycerate mutase deficiency	Has interpretation	Present	true	Inferred relationship	Some	3
HNSHA due to diphosphoglycerate mutase deficiency	Interprets	Haemolysis	true	Inferred relationship	Some	3
HNSHA due to diphosphoglycerate mutase deficiency	Is a	Deficiency of bisphosphoglycerate mutase	false	Inferred relationship	Some
HNSHA due to diphosphoglycerate mutase deficiency	Is a	Hereditary nonspherocytic haemolytic anaemia	true	Inferred relationship	Some
HNSHA due to diphosphoglycerate mutase deficiency	Associated etiologic finding	Enzymopathy	false	Inferred relationship	Some
HNSHA due to diphosphoglycerate mutase deficiency	Associated etiologic finding	Deficiency of bisphosphoglycerate mutase	false	Inferred relationship	Some
HNSHA due to diphosphoglycerate mutase deficiency	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
HNSHA due to diphosphoglycerate mutase deficiency	Has definitional manifestation	Erythropenia	false	Inferred relationship	Some
HNSHA due to diphosphoglycerate mutase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
HNSHA due to diphosphoglycerate mutase deficiency	Is a	Erythrocyte enzyme deficiency	true	Inferred relationship	Some
HNSHA due to diphosphoglycerate mutase deficiency	Is a	Hereditary disorder of haematologic system	false	Inferred relationship	Some
HNSHA due to diphosphoglycerate mutase deficiency	Is a	Anaemia due to enzyme deficiency	true	Inferred relationship	Some
HNSHA due to diphosphoglycerate mutase deficiency	Is a	Congenital anomaly of the haematopoietic system	false	Inferred relationship	Some
HNSHA due to diphosphoglycerate mutase deficiency	Is a	Inborn error of metabolism	false	Inferred relationship	Some
HNSHA due to diphosphoglycerate mutase deficiency	Due to	Deficiency of bisphosphoglycerate mutase	true	Inferred relationship	Some	5
HNSHA due to diphosphoglycerate mutase deficiency	Has definitional manifestation	Haemolysis	false	Inferred relationship	Some
HNSHA due to diphosphoglycerate mutase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
HNSHA due to diphosphoglycerate mutase deficiency	Has interpretation	Below reference range	true	Inferred relationship	Some	1
HNSHA due to diphosphoglycerate mutase deficiency	Interprets	Red blood cell count	true	Inferred relationship	Some	1
HNSHA due to diphosphoglycerate mutase deficiency	Has interpretation	Below reference range	true	Inferred relationship	Some	2
HNSHA due to diphosphoglycerate mutase deficiency	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	2
HNSHA due to diphosphoglycerate mutase deficiency	Finding site	Erythrocyte	true	Inferred relationship	Some	4
HNSHA due to diphosphoglycerate mutase deficiency	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
HNSHA due to diphosphoglycerate mutase deficiency	Occurrence	Congenital	false	Inferred relationship	Some
HNSHA due to diphosphoglycerate mutase deficiency	Interprets	Erythrocyte destruction	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

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
103490017	HNSHA due to diphosphoglycerate mutase deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
2621004014	Hereditary nonspherocytic hemolytic anemia (HNSHA) due to diphosphoglycerate mutase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
2621005010	Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to diphosphoglycerate mutase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
2913737012	Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
2914465016	Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3780588018	Hereditary nonspherocytic haemolytic anaemia due to diphosphoglycerate mutase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core