28975000: Constitutional aplastic anemia (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\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia
\Evaluation finding\Measurement finding\Finding of substance level\Protein level - finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Constitutional aplastic anaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Constitutional aplastic anaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal\Decreased blood leucocyte number\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Red blood cell count outside reference range\RBC count low\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Red blood cell count outside reference range\RBC count low\Congenital anaemia\Constitutional aplastic anaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Decreased blood leucocyte number\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Constitutional aplastic anaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Platelet count below reference range\Thrombocytopenia\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Congenital anaemia\Constitutional aplastic anaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Haemoglobin low\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Haemoglobin low\Congenital anaemia\Constitutional aplastic anaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Decreased blood leucocyte number\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Constitutional aplastic anaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Platelet count below reference range\Thrombocytopenia\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\RBC count low\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\RBC count low\Congenital anaemia\Constitutional aplastic anaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Constitutional aplastic anaemia
\Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Constitutional aplastic anaemia
\Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia
\Evaluation finding\Measurement finding\White blood cell number - finding\White blood cell count abnormal\Decreased blood leucocyte number\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia
\Evaluation finding\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\RBC count low\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia
\Evaluation finding\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\RBC count low\Congenital anaemia\Constitutional aplastic anaemia
\Evaluation finding\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia
\Evaluation finding\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Constitutional aplastic anaemia
\Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia
\Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Constitutional aplastic anaemia
\Evaluation finding\Haematopoietic system finding\Haemostatic system finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Constitutional aplastic anaemia
\Evaluation finding\Haematopoietic system finding\Haemostatic system finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia

\Finding of blood, lymphatics and immune system\Blood disease\...

\Anaemia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia
\Anaemia\Congenital anaemia\Constitutional aplastic anaemia
\Anaemia\Anaemia due to decreased red cell production\Aplastic anaemia\Constitutional aplastic anaemia

\White blood cell disorder\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia

\Platelet disorder\Thrombocytopenia\...

\Congenital thrombocytopenia\Constitutional aplastic anaemia

\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia

\Functional finding\Disorder of haemostatic system\Platelet disorder\Thrombocytopenia\...

\Congenital thrombocytopenia\Constitutional aplastic anaemia

\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia

\Disease\Disorder of immune function\White blood cell disorder\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia
\Disease\Disorder of immune function\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia
\Disease\Blood disease\Anaemia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia
\Disease\Blood disease\Anaemia\Congenital anaemia\Constitutional aplastic anaemia
\Disease\Blood disease\Anaemia\Anaemia due to decreased red cell production\Aplastic anaemia\Constitutional aplastic anaemia
\Disease\Blood disease\White blood cell disorder\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia
\Disease\Blood disease\Platelet disorder\Thrombocytopenia\Congenital thrombocytopenia\Constitutional aplastic anaemia
\Disease\Blood disease\Platelet disorder\Thrombocytopenia\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia
\Disease\Disorder of haemostatic system\Platelet disorder\Thrombocytopenia\Congenital thrombocytopenia\Constitutional aplastic anaemia
\Disease\Disorder of haemostatic system\Platelet disorder\Thrombocytopenia\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia
\Disease\Disorder of body system\Disorder of haematopoietic structure\Bone marrow disorder\Aplastic anaemia\Constitutional aplastic anaemia
\Disease\Disorder of body system\Disorder of haematopoietic structure\Congenital anomaly of the haematopoietic system\Constitutional aplastic anaemia
\Disease\Congenital disease\Congenital thrombocytopenia\Constitutional aplastic anaemia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of the haematopoietic system\Constitutional aplastic anaemia
\Disease\Congenital disease\Congenital anaemia\Constitutional aplastic anaemia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of the haematopoietic system\Constitutional aplastic anaemia

Status: current, Defined. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1216286014 Hypoplastic anaemia - familial en Synonym Active Case insensitive SNOMED CT core

1217785018 Hypoplastic anemia - familial en Synonym Active Case insensitive SNOMED CT core

484029012 Congenital aplastic anaemia en Synonym Active Case insensitive SNOMED CT core

484030019 Constitutional aplastic anaemia en Synonym Active Case insensitive SNOMED CT core

484031015 Congenital aplastic anemia en Synonym Active Case insensitive SNOMED CT core

48508019 Constitutional aplastic anemia en Synonym Active Case insensitive SNOMED CT core

759715015 Constitutional aplastic anemia (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Constitutional aplastic anaemia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Constitutional aplastic anaemia	Is a	Congenital anaemia	true	Inferred relationship	Some
Constitutional aplastic anaemia	Pathological process	Abnormal immune process	true	Inferred relationship	Some	8
Constitutional aplastic anaemia	Has interpretation	Abnormal	false	Inferred relationship	Some	7
Constitutional aplastic anaemia	Interprets	Haemostatic function	true	Inferred relationship	Some	7
Constitutional aplastic anaemia	Has interpretation	Abnormal	true	Inferred relationship	Some	7
Constitutional aplastic anaemia	Is a	Aplastic anaemia	false	Inferred relationship	Some
Constitutional aplastic anaemia	Has definitional manifestation	Decreased erythrocyte production	false	Inferred relationship	Some
Constitutional aplastic anaemia	Is a	Aplastic anaemia	false	Inferred relationship	Some
Constitutional aplastic anaemia	Is a	Anaemia due to decreased red cell production	false	Inferred relationship	Some
Constitutional aplastic anaemia	Has definitional manifestation	Erythropenia	false	Inferred relationship	Some
Constitutional aplastic anaemia	Finding site	Bone structure	false	Inferred relationship	Some
Constitutional aplastic anaemia	Associated morphology	Aplasia	false	Inferred relationship	Some	1
Constitutional aplastic anaemia	Finding site	Bone marrow structure	false	Inferred relationship	Some	1
Constitutional aplastic anaemia	Due to	Decreased erythrocyte production	true	Inferred relationship	Some	6
Constitutional aplastic anaemia	Is a	Aplastic anaemia	true	Inferred relationship	Some
Constitutional aplastic anaemia	Has definitional manifestation	Cytopenia	false	Inferred relationship	Some
Constitutional aplastic anaemia	Interprets	Decreased erythrocyte production	false	Inferred relationship	Some
Constitutional aplastic anaemia	Finding site	Erythrocyte	false	Inferred relationship	Some
Constitutional aplastic anaemia	Finding site	Bone marrow structure	false	Inferred relationship	Some	1
Constitutional aplastic anaemia	Associated morphology	Aplasia	false	Inferred relationship	Some	1
Constitutional aplastic anaemia	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Constitutional aplastic anaemia	Finding site	Bone marrow structure	true	Inferred relationship	Some	3
Constitutional aplastic anaemia	Associated morphology	Aplasia	true	Inferred relationship	Some	3
Constitutional aplastic anaemia	Interprets	Platelet count	true	Inferred relationship	Some	5
Constitutional aplastic anaemia	Is a	Congenital thrombocytopenia	true	Inferred relationship	Some
Constitutional aplastic anaemia	Occurrence	Congenital	true	Inferred relationship	Some	3
Constitutional aplastic anaemia	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Constitutional aplastic anaemia	Is a	Congenital anomaly of the haematopoietic system	true	Inferred relationship	Some
Constitutional aplastic anaemia	Has interpretation	Below reference range	true	Inferred relationship	Some	4
Constitutional aplastic anaemia	Has interpretation	Below reference range	true	Inferred relationship	Some	5
Constitutional aplastic anaemia	Interprets	White blood cell count	true	Inferred relationship	Some	2
Constitutional aplastic anaemia	Interprets	Red blood cell count	true	Inferred relationship	Some	4
Constitutional aplastic anaemia	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	1
Constitutional aplastic anaemia	Is a	Bone marrow disorder	false	Inferred relationship	Some
Constitutional aplastic anaemia	Is a	Pancytopenia	false	Inferred relationship	Some
Constitutional aplastic anaemia	Is a	Cytopenia	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Pancytopenia with developmental delay syndrome	Is a	True	Constitutional aplastic anaemia	Inferred relationship	Some
Hereditary isolated aplastic anaemia	Is a	True	Constitutional aplastic anaemia	Inferred relationship	Some
Constitutional aplastic anaemia without mention of malformation	Is a	False	Constitutional aplastic anaemia	Inferred relationship	Some
Constitutional aplastic anaemia with malformation	Is a	True	Constitutional aplastic anaemia	Inferred relationship	Some
Revesz syndrome	Is a	True	Constitutional aplastic anaemia	Inferred relationship	Some
Fanconi's anaemia	Is a	True	Constitutional aplastic anaemia	Inferred relationship	Some
WT limb blood syndrome	Is a	True	Constitutional aplastic anaemia	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1216286014	Hypoplastic anaemia - familial	en	Synonym	Active	Case insensitive	SNOMED CT core
1217785018	Hypoplastic anemia - familial	en	Synonym	Active	Case insensitive	SNOMED CT core
484029012	Congenital aplastic anaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
484030019	Constitutional aplastic anaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
484031015	Congenital aplastic anemia	en	Synonym	Active	Case insensitive	SNOMED CT core
48508019	Constitutional aplastic anemia	en	Synonym	Active	Case insensitive	SNOMED CT core
759715015	Constitutional aplastic anemia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core