734349003: Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (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\Congenital anaemia\Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16
• \Evaluation finding\Measurement finding\Finding of substance level\Protein level - finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\Alpha thalassaemia\Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16
• \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\Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Congenital anaemia\Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Haemoglobin low\Congenital anaemia\Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Haemoglobin low\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\Alpha thalassaemia\Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\RBC count low\Congenital anaemia\Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\Alpha thalassaemia\Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16
• \Evaluation finding\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\RBC count low\Congenital anaemia\Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16
• \Evaluation finding\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16
• \Evaluation finding\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\Alpha thalassaemia\Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16
• \Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16
• \Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\Alpha thalassaemia\Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16
• \Finding of blood, lymphatics and immune system\Blood disease\...
• \Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary haemoglobinopathy\Thalassaemia\Alpha thalassaemia\Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16
• \Anaemia\Congenital anaemia\Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16
• \Anaemia\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\Alpha thalassaemia\Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16
• \Red blood cell disorder\Hereditary red blood cell disorder\Hereditary haemoglobinopathy\Thalassaemia\Alpha thalassaemia\Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16
• \Red blood cell disorder\Haemoglobinopathy\Hereditary haemoglobinopathy\Thalassaemia\Alpha thalassaemia\Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary haemoglobinopathy\Thalassaemia\Alpha thalassaemia\Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16
• \Disease\Blood disease\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary haemoglobinopathy\Thalassaemia\Alpha thalassaemia\Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16
• \Disease\Blood disease\Anaemia\Congenital anaemia\Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16
• \Disease\Blood disease\Anaemia\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\Alpha thalassaemia\Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16
• \Disease\Blood disease\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary haemoglobinopathy\Thalassaemia\Alpha thalassaemia\Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16
• \Disease\Blood disease\Red blood cell disorder\Haemoglobinopathy\Hereditary haemoglobinopathy\Thalassaemia\Alpha thalassaemia\Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16
• \Disease\Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 16\Deletion of part of short arm of chromosome 16\Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16
• \Disease\Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 16\Deletion of part of chromosome 16\Deletion of part of short arm of chromosome 16\Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary haemoglobinopathy\Thalassaemia\Alpha thalassaemia\Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16
• \Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary haemoglobinopathy\Thalassaemia\Alpha thalassaemia\Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16
• \Disease\Disorder of body system\Red blood cell disorder\Haemoglobinopathy\Hereditary haemoglobinopathy\Thalassaemia\Alpha thalassaemia\Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16
• \Disease\Congenital disease\Hereditary haemoglobinopathy\Thalassaemia\Alpha thalassaemia\Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16
• \Disease\Congenital disease\Congenital anomaly\Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16
• \Disease\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 16\Deletion of part of short arm of chromosome 16\Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16
• \Disease\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 16\Deletion of part of chromosome 16\Deletion of part of short arm of chromosome 16\Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16
• \Disease\Congenital disease\Congenital anaemia\Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16
• \Disease\Developmental disorder\Developmental hereditary disorder\Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16
• \Disease\Developmental disorder\Congenital anomaly\Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16

Status: current, Primitive. Date: 31-Jan 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3505250016	Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3505251017	Alpha-thalassemia intellectual disability syndrome linked to chromosome 16	en	Synonym	Active	Case insensitive	SNOMED CT core
3505252012	Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16	en	Synonym	Active	Case insensitive	SNOMED CT core
3505253019	ATR-16 syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3505254013	Alpha thalassemia intellectual disability syndrome, deletion type	en	Synonym	Active	Case insensitive	SNOMED CT core
3505255014	Alpha thalassaemia intellectual disability syndrome, deletion type	en	Synonym	Active	Case insensitive	SNOMED CT core
3505256010	A congenital contiguous gene deletion syndrome, which is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin level or mild anemia, associated with developmental abnormalities. Caused by large deletions on chromosome band 16p13.3 which remove the alpha-globin genes (HBA1 and HBA2), and many other flanking genes. The gene(s) responsible for intellectual deficiency and other developmental abnormalities has not been clearly identified. All cases are due to de novo deletions or segregation for parental translocations inherited in an unbalanced manner. The prognosis is highly variable, depending on the degree of intellectual deficiency.	en	Definition	Active	Case sensitive	SNOMED CT core
3505257018	A congenital contiguous gene deletion syndrome, which is a form of alpha-thalassemia characterised by microcytosis, hypochromia, normal haemoglobin level or mild anaemia, associated with developmental abnormalities. Caused by large deletions on chromosome band 16p13.3 which remove the alpha-globin genes (HBA1 and HBA2), and many other flanking genes. The gene(s) responsible for intellectual deficiency and other developmental abnormalities has not been clearly identified. All cases are due to de novo deletions or segregation for parental translocations inherited in an unbalanced manner. The prognosis is highly variable, depending on the degree of intellectual deficiency.	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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