34194007: Hereditary nonspherocytic hemolytic anemia due to pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase deficiency
\Finding of blood, lymphatics and immune system\Blood disease\Anaemia\Haemolytic anaemia\Anaemia due to enzyme deficiency\HNSHA due to pyrimidine-5'-nucleotidase deficiency
\Finding of blood, lymphatics and immune system\Blood disease\Anaemia\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to pyrimidine-5'-nucleotidase deficiency
\Finding of blood, lymphatics and immune system\Blood disease\Haemolytic disorder\Haemolytic anaemia\Anaemia due to enzyme deficiency\HNSHA due to pyrimidine-5'-nucleotidase deficiency
\Finding of blood, lymphatics and immune system\Blood disease\Haemolytic disorder\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase deficiency
\Finding of blood, lymphatics and immune system\Blood disease\Red blood cell disorder\Erythrocyte enzyme deficiency\HNSHA due to pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase deficiency

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

\Anaemia due to enzyme deficiency\HNSHA due to pyrimidine-5'-nucleotidase deficiency

\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase deficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\HNSHA due to pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase deficiency
\Disease\Blood disease\Anaemia\Anaemia due to metabolic disorder\Anaemia due to enzymopathy\Anaemia due to enzyme deficiency\HNSHA due to pyrimidine-5'-nucleotidase deficiency
\Disease\Blood disease\Anaemia\Haemolytic anaemia\Anaemia due to enzyme deficiency\HNSHA due to pyrimidine-5'-nucleotidase deficiency
\Disease\Blood disease\Anaemia\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to pyrimidine-5'-nucleotidase deficiency
\Disease\Blood disease\Haemolytic disorder\Haemolytic anaemia\Anaemia due to enzyme deficiency\HNSHA due to pyrimidine-5'-nucleotidase deficiency
\Disease\Blood disease\Haemolytic disorder\Haemolytic anaemia\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to pyrimidine-5'-nucleotidase deficiency
\Disease\Blood disease\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary haemolytic anaemia\Hereditary nonspherocytic haemolytic anaemia\HNSHA due to pyrimidine-5'-nucleotidase deficiency
\Disease\Blood disease\Red blood cell disorder\Erythrocyte enzyme deficiency\HNSHA due to pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase 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 pyrimidine-5'-nucleotidase deficiency
\Disease\Disorder of body system\Red blood cell disorder\Erythrocyte enzyme deficiency\HNSHA due to pyrimidine-5'-nucleotidase deficiency

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2620665017 Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to pyrimidine-5'-nucleotidase deficiency en Synonym Active Initial character case insensitive SNOMED CT core

2620666016 Hereditary nonspherocytic hemolytic anemia (HNSHA) due to pyrimidine-5'-nucleotidase deficiency en Synonym Active Initial character case insensitive SNOMED CT core

2914455010 Hereditary nonspherocytic hemolytic anemia due to pyrimidine-5'-nucleotidase deficiency (disorder) en Fully specified name Active Case insensitive SNOMED CT core

2914786017 Hereditary nonspherocytic hemolytic anemia due to pyrimidine-5'-nucleotidase deficiency en Synonym Active Case insensitive SNOMED CT core

3780599016 Hereditary nonspherocytic haemolytic anaemia due to pyrimidine-5'-nucleotidase deficiency en Synonym Active Case insensitive SNOMED CT core

57102018 HNSHA due to pyrimidine-5'-nucleotidase deficiency en Synonym Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
HNSHA due to pyrimidine-5'-nucleotidase deficiency	Has interpretation	Present	true	Inferred relationship	Some	3
HNSHA due to pyrimidine-5'-nucleotidase deficiency	Interprets	Haemolysis	true	Inferred relationship	Some	3
HNSHA due to pyrimidine-5'-nucleotidase deficiency	Is a	Hereditary nonspherocytic haemolytic anaemia	true	Inferred relationship	Some
HNSHA due to pyrimidine-5'-nucleotidase deficiency	Associated etiologic finding	Enzymopathy	false	Inferred relationship	Some
HNSHA due to pyrimidine-5'-nucleotidase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
HNSHA due to pyrimidine-5'-nucleotidase deficiency	Is a	Anaemia due to enzyme deficiency	true	Inferred relationship	Some
HNSHA due to pyrimidine-5'-nucleotidase deficiency	Is a	Hereditary disorder of haematologic system	false	Inferred relationship	Some
HNSHA due to pyrimidine-5'-nucleotidase deficiency	Is a	Erythrocyte enzyme deficiency	true	Inferred relationship	Some
HNSHA due to pyrimidine-5'-nucleotidase deficiency	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
HNSHA due to pyrimidine-5'-nucleotidase deficiency	Has definitional manifestation	Erythropenia	false	Inferred relationship	Some
HNSHA due to pyrimidine-5'-nucleotidase deficiency	Due to	Enzymopathy	true	Inferred relationship	Some	5
HNSHA due to pyrimidine-5'-nucleotidase deficiency	Has definitional manifestation	Haemolysis	false	Inferred relationship	Some
HNSHA due to pyrimidine-5'-nucleotidase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
HNSHA due to pyrimidine-5'-nucleotidase deficiency	Has interpretation	Below reference range	true	Inferred relationship	Some	1
HNSHA due to pyrimidine-5'-nucleotidase deficiency	Has interpretation	Below reference range	true	Inferred relationship	Some	2
HNSHA due to pyrimidine-5'-nucleotidase deficiency	Interprets	Red blood cell count	true	Inferred relationship	Some	1
HNSHA due to pyrimidine-5'-nucleotidase deficiency	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	2
HNSHA due to pyrimidine-5'-nucleotidase deficiency	Finding site	Haematopoietic system structure	false	Inferred relationship	Some
HNSHA due to pyrimidine-5'-nucleotidase deficiency	Finding site	Erythrocyte	true	Inferred relationship	Some	4
HNSHA due to pyrimidine-5'-nucleotidase 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
2620665017	Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to pyrimidine-5'-nucleotidase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
2620666016	Hereditary nonspherocytic hemolytic anemia (HNSHA) due to pyrimidine-5'-nucleotidase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
2914455010	Hereditary nonspherocytic hemolytic anemia due to pyrimidine-5'-nucleotidase deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
2914786017	Hereditary nonspherocytic hemolytic anemia due to pyrimidine-5'-nucleotidase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3780599016	Hereditary nonspherocytic haemolytic anaemia due to pyrimidine-5'-nucleotidase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
57102018	HNSHA due to pyrimidine-5'-nucleotidase deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core