28975000: Constitutional aplastic anemia (disorder)

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

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\...

\Anaemia\Pancytopenia (disorder)\Aplastic anaemia\Constitutional aplastic anaemia
\Anaemia\Congenital anemia\Constitutional aplastic anaemia
\Anaemia\Anemia due to decreased red cell production (disorder)\Aplastic anaemia\Constitutional aplastic anaemia

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

\Platelet disorder\Thrombocytopenic disorder\...

\Congenital thrombocytopaenia\Constitutional aplastic anaemia

\Immune thrombocytopenia\Pancytopenia (disorder)\Aplastic anaemia\Constitutional aplastic anaemia

\Procedure related finding\Evaluation finding\...

\Measurement finding\Finding of substance level (finding)\Finding of protein level (finding)\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Pancytopenia (disorder)\Aplastic anaemia\Constitutional aplastic anaemia
\Measurement finding\Finding of substance level (finding)\Finding of protein level (finding)\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia\Constitutional aplastic anaemia
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopaenia\Constitutional aplastic anaemia
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia (disorder)\Aplastic anaemia\Constitutional aplastic anaemia
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\White cell count abnormal\Decreased blood leukocyte number\Leucopenia\Pancytopenia (disorder)\Aplastic anaemia\Constitutional aplastic anaemia
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range\Red blood cell count below reference range\Pancytopenia (disorder)\Aplastic anaemia\Constitutional aplastic anaemia
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range\Red blood cell count below reference range\Congenital anemia\Constitutional aplastic anaemia
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Decreased blood leukocyte number\Leucopenia\Pancytopenia (disorder)\Aplastic anaemia\Constitutional aplastic anaemia
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopaenia\Constitutional aplastic anaemia
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia (disorder)\Aplastic anaemia\Constitutional aplastic anaemia
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Pancytopenia (disorder)\Aplastic anaemia\Constitutional aplastic anaemia
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Congenital anemia\Constitutional aplastic anaemia
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Pancytopenia (disorder)\Aplastic anaemia\Constitutional aplastic anaemia
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Constitutional aplastic anaemia
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Decreased blood leukocyte number\Leucopenia\Pancytopenia (disorder)\Aplastic anaemia\Constitutional aplastic anaemia
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopaenia\Constitutional aplastic anaemia
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia (disorder)\Aplastic anaemia\Constitutional aplastic anaemia
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Pancytopenia (disorder)\Aplastic anaemia\Constitutional aplastic anaemia
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Congenital anemia\Constitutional aplastic anaemia
\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Pancytopenia (disorder)\Aplastic anaemia\Constitutional aplastic anaemia
\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia\Constitutional aplastic anaemia
\Measurement finding\Finding of platelet count (finding)\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopaenia\Constitutional aplastic anaemia
\Measurement finding\Finding of platelet count (finding)\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia (disorder)\Aplastic anaemia\Constitutional aplastic anaemia
\Measurement finding\White blood cell number - finding\White cell count abnormal\Decreased blood leukocyte number\Leucopenia\Pancytopenia (disorder)\Aplastic anaemia\Constitutional aplastic anaemia
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\Red blood cell count below reference range\Pancytopenia (disorder)\Aplastic anaemia\Constitutional aplastic anaemia
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\Red blood cell count below reference range\Congenital anemia\Constitutional aplastic anaemia

\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Pancytopenia (disorder)\Aplastic anaemia\Constitutional aplastic anaemia
\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia\Constitutional aplastic anaemia
\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Pancytopenia (disorder)\Aplastic anaemia\Constitutional aplastic anaemia
\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia\Constitutional aplastic anaemia
\Haematopoietic system finding\Hemostatic system finding (finding)\Finding of platelet count (finding)\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopaenia\Constitutional aplastic anaemia
\Haematopoietic system finding\Hemostatic system finding (finding)\Finding of platelet count (finding)\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia (disorder)\Aplastic anaemia\Constitutional aplastic anaemia

\Functional finding\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\...

\Congenital thrombocytopaenia\Constitutional aplastic anaemia

\Immune thrombocytopenia\Pancytopenia (disorder)\Aplastic anaemia\Constitutional aplastic anaemia

\Disease\Disorder of immune function (disorder)\White blood cell disorder\Leucopenia\Pancytopenia (disorder)\Aplastic anaemia\Constitutional aplastic anaemia
\Disease\Disorder of immune function (disorder)\Immune thrombocytopenia\Pancytopenia (disorder)\Aplastic anaemia\Constitutional aplastic anaemia
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital thrombocytopaenia\Constitutional aplastic anaemia
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of the haematopoietic system\Constitutional aplastic anaemia
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital anemia\Constitutional aplastic anaemia
\Disease\Disorder of cellular component of blood\Anaemia\Pancytopenia (disorder)\Aplastic anaemia\Constitutional aplastic anaemia
\Disease\Disorder of cellular component of blood\Anaemia\Congenital anemia\Constitutional aplastic anaemia
\Disease\Disorder of cellular component of blood\Anaemia\Anemia due to decreased red cell production (disorder)\Aplastic anaemia\Constitutional aplastic anaemia
\Disease\Disorder of cellular component of blood\White blood cell disorder\Leucopenia\Pancytopenia (disorder)\Aplastic anaemia\Constitutional aplastic anaemia
\Disease\Disorder of cellular component of blood\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopaenia\Constitutional aplastic anaemia
\Disease\Disorder of cellular component of blood\Platelet disorder\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia (disorder)\Aplastic anaemia\Constitutional aplastic anaemia
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopaenia\Constitutional aplastic anaemia
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia (disorder)\Aplastic anaemia\Constitutional aplastic anaemia
\Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Bone marrow disorder\Aplastic anaemia\Constitutional aplastic anaemia
\Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Congenital anomaly of the haematopoietic system\Constitutional aplastic anaemia
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of the haematopoietic system\Constitutional aplastic anaemia

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Constitutional aplastic anaemia	Is a	Aplastic anemia	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Constitutional aplastic anaemia	Is a	Anemia due to decreased red cell production (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Constitutional aplastic anaemia	Interprets	Decreased erythrocyte production	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Constitutional aplastic anaemia	Finding site	Erythrocyte	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Constitutional aplastic anaemia	Finding site	Bone marrow structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Constitutional aplastic anaemia	Associated morphology	Aplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Constitutional aplastic anaemia	Is a	Aplastic anaemia	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Constitutional aplastic anaemia	Has definitional manifestation	Decreased erythrocyte production	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Constitutional aplastic anaemia	Has definitional manifestation	érythropénie	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Constitutional aplastic anaemia	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Constitutional aplastic anaemia	Associated morphology	Aplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Constitutional aplastic anaemia	Finding site	Bone marrow structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Constitutional aplastic anaemia	Due to	Decreased erythrocyte production	true	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Constitutional aplastic anaemia	Is a	Aplastic anaemia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Constitutional aplastic anaemia	Has definitional manifestation	Cytopenia	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Constitutional aplastic anaemia	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Constitutional aplastic anaemia	Finding site	Bone marrow structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Constitutional aplastic anaemia	Associated morphology	Aplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Constitutional aplastic anaemia	Interprets	Platelet count	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Constitutional aplastic anaemia	Is a	Congenital thrombocytopaenia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Constitutional aplastic anaemia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Constitutional aplastic anaemia	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Constitutional aplastic anaemia	Is a	Congenital anomaly of the haematopoietic system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Constitutional aplastic anaemia	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Constitutional aplastic anaemia	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Constitutional aplastic anaemia	Interprets	White blood cell count (procedure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Constitutional aplastic anaemia	Interprets	Red blood cell count	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Constitutional aplastic anaemia	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Constitutional aplastic anaemia	Is a	Bone marrow disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Constitutional aplastic anaemia	Is a	Pancytopenia (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Constitutional aplastic anaemia	Is a	Cytopenia	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Constitutional aplastic anaemia	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Constitutional aplastic anaemia	Is a	Congenital anemia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Constitutional aplastic anaemia	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	8
Constitutional aplastic anaemia	Has interpretation	Abnormal	false	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Constitutional aplastic anaemia	Interprets	Hemostatic function	true	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Constitutional aplastic anaemia	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier (core metadata concept)	7

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Constitutional aplastic anemia without mention of malformation	Is a	False	Constitutional aplastic anaemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Constitutional aplastic anemia with malformation	Is a	True	Constitutional aplastic anaemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Revesz syndrome (disorder)	Is a	True	Constitutional aplastic anaemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Fanconi's anemia	Is a	True	Constitutional aplastic anaemia	Inferred relationship	Existential restriction modifier (core metadata concept)
WT limb blood syndrome (disorder)	Is a	True	Constitutional aplastic anaemia	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic hematologic disorder characterized by progressive trilineage bone marrow failure (with hypocellularity), developmental delay with learning disabilities and microcephaly. Mild facial dysmorphism and hypotonia have also been reported. There is evidence the disease is caused by homozygous mutation in the ERCC6L2 gene on chromosome 9q22.	Is a	True	Constitutional aplastic anaemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary isolated aplastic anemia	Is a	True	Constitutional aplastic anaemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Aplastic anemia, intellectual disability, dwarfism syndrome (disorder)	Is a	True	Constitutional aplastic anaemia	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
48508019	Constitutional aplastic anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
484029012	Congenital aplastic anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
484030019	Constitutional aplastic anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
484031015	Congenital aplastic anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
759715015	Constitutional aplastic anemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1216286014	Hypoplastic anaemia - familial	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1217785018	Hypoplastic anemia - familial	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
48508019	Constitutional aplastic anemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
48508019	Constitutional aplastic anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
484029012	Congenital aplastic anaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
484029012	Congenital aplastic anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
484030019	Constitutional aplastic anaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
484030019	Constitutional aplastic anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
484031015	Congenital aplastic anemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
484031015	Congenital aplastic anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
759715015	Constitutional aplastic anemia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
759715015	Constitutional aplastic anemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1216286014	Hypoplastic anaemia - familial	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1216286014	Hypoplastic anaemia - familial	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1217785018	Hypoplastic anemia - familial	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1217785018	Hypoplastic anemia - familial	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
930591000195116	anemia aplastica costituzionale	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
381311000274110	Angeborene aplastische Anämie	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
661821000274116	Genetisch bedingte aplastische Anämie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4483141000241114	anémie aplasique constitutionnelle	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4483141000241114	anémie aplasique constitutionnelle	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
930591000195116	anemia aplastica costituzionale	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
381311000274110	Angeborene aplastische Anämie	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
661821000274116	Genetisch bedingte aplastische Anämie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module