774071007: Pancytopenia with developmental delay syndrome (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\Pancytopenia with developmental delay syndrome
• \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\Pancytopenia with developmental delay syndrome
• \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\Pancytopenia with developmental delay syndrome
• \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\Pancytopenia with developmental delay syndrome
• \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\Pancytopenia with developmental delay syndrome
• \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\Pancytopenia with developmental delay syndrome
• \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\Pancytopenia with developmental delay syndrome
• \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\Pancytopenia with developmental delay syndrome
• \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\Pancytopenia with developmental delay syndrome
• \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\Pancytopenia with developmental delay syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Congenital anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Haemoglobin low\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Haemoglobin low\Congenital anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \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\Pancytopenia with developmental delay syndrome
• \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\Pancytopenia with developmental delay syndrome
• \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\Pancytopenia with developmental delay syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\RBC count low\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\RBC count low\Congenital anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \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\Pancytopenia with developmental delay syndrome
• \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\Pancytopenia with developmental delay syndrome
• \Evaluation finding\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\RBC count low\Congenital anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Evaluation finding\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Evaluation finding\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \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\Pancytopenia with developmental delay syndrome
• \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\Pancytopenia with developmental delay syndrome
• \Finding of blood, lymphatics and immune system\Blood disease\...
• \Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Pancytopenia with developmental delay syndrome
• \Hereditary disorder of cellular element of blood\Inherited platelet disorder\Pancytopenia with developmental delay syndrome
• \Anaemia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Anaemia\Congenital anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Anaemia\Anaemia due to decreased red cell production\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \White blood cell disorder\Hereditary white blood cell disorder\Pancytopenia with developmental delay syndrome
• \White blood cell disorder\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Platelet disorder\Thrombocytopenia\Congenital thrombocytopenia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Platelet disorder\Thrombocytopenia\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Platelet disorder\Inherited platelet disorder\Pancytopenia with developmental delay syndrome
• \Functional finding\Disorder of haemostatic system\Platelet disorder\...
• \Thrombocytopenia\Congenital thrombocytopenia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Thrombocytopenia\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Inherited platelet disorder\Pancytopenia with developmental delay syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Pancytopenia with developmental delay syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Pancytopenia with developmental delay syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder\Pancytopenia with developmental delay syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Pancytopenia with developmental delay syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Pancytopenia with developmental delay syndrome
• \Disease\Disorder of immune function\Hereditary disorder of immune system\Hereditary white blood cell disorder\Pancytopenia with developmental delay syndrome
• \Disease\Disorder of immune function\White blood cell disorder\Hereditary white blood cell disorder\Pancytopenia with developmental delay syndrome
• \Disease\Disorder of immune function\White blood cell disorder\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Disease\Disorder of immune function\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Disease\Blood disease\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Pancytopenia with developmental delay syndrome
• \Disease\Blood disease\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Pancytopenia with developmental delay syndrome
• \Disease\Blood disease\Anaemia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Disease\Blood disease\Anaemia\Congenital anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Disease\Blood disease\Anaemia\Anaemia due to decreased red cell production\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Disease\Blood disease\White blood cell disorder\Hereditary white blood cell disorder\Pancytopenia with developmental delay syndrome
• \Disease\Blood disease\White blood cell disorder\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Disease\Blood disease\Platelet disorder\Thrombocytopenia\Congenital thrombocytopenia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Disease\Blood disease\Platelet disorder\Thrombocytopenia\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Disease\Blood disease\Platelet disorder\Inherited platelet disorder\Pancytopenia with developmental delay syndrome
• \Disease\Disorder of haemostatic system\Platelet disorder\Thrombocytopenia\Congenital thrombocytopenia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Disease\Disorder of haemostatic system\Platelet disorder\Thrombocytopenia\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Disease\Disorder of haemostatic system\Platelet disorder\Inherited platelet disorder\Pancytopenia with developmental delay syndrome
• \Disease\Disorder of body system\Disorder of haematopoietic structure\Bone marrow disorder\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Disease\Disorder of body system\Disorder of haematopoietic structure\Congenital anomaly of the haematopoietic system\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Pancytopenia with developmental delay syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Pancytopenia with developmental delay syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder\Pancytopenia with developmental delay syndrome
• \Disease\Congenital disease\Congenital thrombocytopenia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of the haematopoietic system\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Disease\Congenital disease\Congenital anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Pancytopenia with developmental delay syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of the haematopoietic system\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Disease\Developmental disorder\Developmental delay\Pancytopenia with developmental delay syndrome

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3727876017	Trilineage bone marrow failure with developmental delay syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3727877014	Pancytopenia with developmental delay syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3727878016	Pancytopenia with developmental delay syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3727879012	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.	en	Definition	Active	Case sensitive	SNOMED CT core
3727880010	A rare genetic haematologic disorder characterised 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.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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