1332385000: syndroom van aplastische anemie, verstandelijke beperking en dwerggroei (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)\...
• \Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\AMeD syndrome
• \Congenital anemia\Constitutional aplastic anemia\AMeD syndrome
• \Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\...
• \Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\AMeD syndrome
• \Congenital anemia\Constitutional aplastic anemia\AMeD syndrome
• \Hemostatic system finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\...
• \Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia\AMeD syndrome
• \Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\AMeD syndrome
• \Head finding (finding)\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\AMeD syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\AMeD syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\AMeD syndrome
• \Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\AMeD syndrome
• \Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\AMeD syndrome
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\...
• \Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\AMeD syndrome
• \Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\AMeD syndrome
• \Anemia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\AMeD syndrome
• \Anemia\Congenital anemia\Constitutional aplastic anemia\AMeD syndrome
• \Anemia\Anemia due to decreased red cell production\Aplastic anaemia\Constitutional aplastic anemia\AMeD syndrome
• \White blood cell disorder\Hereditary white blood cell disorder (disorder)\AMeD syndrome
• \White blood cell disorder\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\AMeD syndrome
• \Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia\AMeD syndrome
• \Platelet disorder\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\AMeD syndrome
• \Platelet disorder\Inherited platelet disorder\AMeD syndrome
• \Finding of general physiological development\Disorder of stature\Short stature disorder\AMeD syndrome
• \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)\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\AMeD syndrome
• \Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Constitutional aplastic anemia\AMeD syndrome
• \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 thrombocytopenia (disorder)\Constitutional aplastic anemia\AMeD syndrome
• \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\Aplastic anaemia\Constitutional aplastic anemia\AMeD syndrome
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\White blood cell count outside reference range\Blood leukocyte number below reference range\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\AMeD syndrome
• \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\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\AMeD syndrome
• \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\Congenital anemia\Constitutional aplastic anemia\AMeD syndrome
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Blood leukocyte number below reference range\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\AMeD syndrome
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia\AMeD syndrome
• \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\Aplastic anaemia\Constitutional aplastic anemia\AMeD syndrome
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\AMeD syndrome
• \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 anemia\AMeD syndrome
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\AMeD syndrome
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Constitutional aplastic anemia\AMeD syndrome
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Blood leukocyte number below reference range\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\AMeD syndrome
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia\AMeD syndrome
• \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\Aplastic anaemia\Constitutional aplastic anemia\AMeD syndrome
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\AMeD syndrome
• \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 anemia\AMeD syndrome
• \Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\AMeD syndrome
• \Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Constitutional aplastic anemia\AMeD syndrome
• \Measurement finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia\AMeD syndrome
• \Measurement finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\AMeD syndrome
• \Measurement finding\White blood cell number - finding\White blood cell count outside reference range\Blood leukocyte number below reference range\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\AMeD syndrome
• \Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\AMeD syndrome
• \Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Congenital anemia\Constitutional aplastic anemia\AMeD syndrome
• \Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\AMeD syndrome
• \Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Constitutional aplastic anemia\AMeD syndrome
• \Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\AMeD syndrome
• \Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Constitutional aplastic anemia\AMeD syndrome
• \Hematopoietic system finding\Hemostatic system finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia\AMeD syndrome
• \Hematopoietic system finding\Hemostatic system finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\AMeD syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\AMeD syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\AMeD syndrome
• \Functional finding\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia\AMeD syndrome
• \Functional finding\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\AMeD syndrome
• \Functional finding\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\AMeD syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\AMeD syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\AMeD syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\AMeD syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\AMeD syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\AMeD syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\AMeD syndrome
• \Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\AMeD syndrome
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\AMeD syndrome
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\AMeD syndrome
• \Disease\Disorder of immune function (disorder)\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\AMeD syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia\AMeD syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\AMeD syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of the hematopoietic system\Constitutional aplastic anemia\AMeD syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital anemia\Constitutional aplastic anemia\AMeD syndrome
• \Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\AMeD syndrome
• \Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\AMeD syndrome
• \Disease\Disorder of cellular component of blood (disorder)\Anemia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\AMeD syndrome
• \Disease\Disorder of cellular component of blood (disorder)\Anemia\Congenital anemia\Constitutional aplastic anemia\AMeD syndrome
• \Disease\Disorder of cellular component of blood (disorder)\Anemia\Anemia due to decreased red cell production\Aplastic anaemia\Constitutional aplastic anemia\AMeD syndrome
• \Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\AMeD syndrome
• \Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\AMeD syndrome
• \Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia\AMeD syndrome
• \Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\AMeD syndrome
• \Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Inherited platelet disorder\AMeD syndrome
• \Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia\AMeD syndrome
• \Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\AMeD syndrome
• \Disease\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\AMeD syndrome
• \Disease\Disorder of body system\Hematological disorder (disorder)\Disorder of hematopoietic structure (disorder)\Bone marrow disorder\Aplastic anaemia\Constitutional aplastic anemia\AMeD syndrome
• \Disease\Disorder of body system\Hematological disorder (disorder)\Disorder of hematopoietic structure (disorder)\Congenital anomaly of the hematopoietic system\Constitutional aplastic anemia\AMeD syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\AMeD syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\AMeD syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\AMeD syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\AMeD syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\AMeD syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\AMeD syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\AMeD syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of the hematopoietic system\Constitutional aplastic anemia\AMeD syndrome
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\AMeD syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-May 2024. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5353858019	Aplastic anemia, intellectual disability, dwarfism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5353859010	AMeD syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5353861018	AMeD (aplastic anemia, intellectual disability, dwarfism) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5353862013	Aplastic anaemia, intellectual disability, dwarfism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5353864014	Aplastic anemia, intellectual disability, dwarfism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5353865010	AMeD (aplastic anaemia, intellectual disability, dwarfism) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
15106251000146118	syndroom van aplastische anemie, mentale retardatie en dwerggroei	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
15106261000146115	AMeD-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
15106271000146114	syndroom van aplastische anemie, verstandelijke beperking en dwerggroei	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
15106281000146111	syndroom van aplastische anemie, verstandelijke beperking en dwerggroei (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
15106291000146113	syndroom van aplastische anemie, verstandelijke handicap en dwerggroei	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
5353860017	A rare constitutional aplastic anaemia characterised by aplastic anaemia, intellectual disability, short stature, and microcephaly. Skin pigmentation or cafe au lait spots are often present. Majority of the patients present global developmental delay with impaired motor skills, learning disabilities, speech delay whereas some patients also may have behavioural problems including autistic features. Patients often develop premalignant myelodysplastic syndromes or leukaemia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5353863015	A rare constitutional aplastic anemia characterized by aplastic anemia, intellectual disability, short stature, and microcephaly. Skin pigmentation or cafe au lait spots are often present. Majority of the patients present global developmental delay with impaired motor skills, learning disabilities, speech delay whereas some patients also may have behavioral problems including autistic features. Patients often develop premalignant myelodysplastic syndromes or leukemia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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