734349003: Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\...
• \Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Alpha thalassemia\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
• \Anaemia\Congenital anemia\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
• \Anaemia\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\Alpha thalassemia\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
• \Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Alpha thalassemia\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
• \Red blood cell disorder\Haemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Alpha thalassemia\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
• \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)\Congenital anemia\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
• \Measurement finding\Finding of substance level (finding)\Finding of protein level (finding)\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\Alpha thalassemia\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
• \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\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Congenital anemia\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\Alpha thalassemia\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Congenital anemia\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
• \Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
• \Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\Alpha thalassemia\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
• \Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\Red blood cell count below reference range\Congenital anemia\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
• \Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
• \Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\Alpha thalassemia\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
• \Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Congenital anemia\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
• \Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\Alpha thalassemia\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Alpha thalassemia\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Alpha thalassemia\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 16 (disorder)\Deletion of part of short arm of chromosome 16 (disorder)\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 16\Deletion of part of chromosome 16 (disorder)\Deletion of part of short arm of chromosome 16 (disorder)\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital anemia\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
• \Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Alpha thalassemia\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
• \Disease\Disorder of cellular component of blood\Anaemia\Congenital anemia\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
• \Disease\Disorder of cellular component of blood\Anaemia\Anaemia due to disturbance of haemoglobin synthesis\Thalassaemia\Alpha thalassemia\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
• \Disease\Disorder of cellular component of blood\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Alpha thalassemia\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
• \Disease\Disorder of cellular component of blood\Red blood cell disorder\Haemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Alpha thalassemia\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
• \Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 16 (disorder)\Deletion of part of short arm of chromosome 16 (disorder)\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
• \Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 16\Deletion of part of chromosome 16 (disorder)\Deletion of part of short arm of chromosome 16 (disorder)\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Alpha thalassemia\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
• \Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Alpha thalassemia\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
• \Disease\Disorder of body system\Red blood cell disorder\Haemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassaemia\Alpha thalassemia\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16
• \Disease\Developmental disorder (disorder)\Congenital malformation\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
3505251017	Alpha-thalassemia intellectual disability syndrome linked to chromosome 16	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3505252012	Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3505253019	ATR-16 syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3505254013	Alpha thalassemia intellectual disability syndrome, deletion type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3505255014	Alpha thalassaemia intellectual disability syndrome, deletion type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5403883013	A rare developmental defect during embryogenesis, a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403884019	A rare developmental defect during embryogenesis, a contiguous gene deletion syndrome, is a form of alpha-thalassaemia characterised by microcytosis, hypochromia, normal haemoglobin (Hb) level or mild anaemia, associated with developmental abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3505250016	Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3505251017	Alpha-thalassemia intellectual disability syndrome linked to chromosome 16	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3505252012	Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3505253019	ATR-16 syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3505254013	Alpha thalassemia intellectual disability syndrome, deletion type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3505255014	Alpha thalassaemia intellectual disability syndrome, deletion type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403883013	A rare developmental defect during embryogenesis, a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403884019	A rare developmental defect during embryogenesis, a contiguous gene deletion syndrome, is a form of alpha-thalassaemia characterised by microcytosis, hypochromia, normal haemoglobin (Hb) level or mild anaemia, associated with developmental abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3382281001000119	Alpha-Thalassämie-Intelligenzminderung-Syndrom, gekoppelt an Chr. 16	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
986591000172118	syndrome ATR associé au chromosome 16	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1005791000172114	syndrome d'alpha-thalassémie-déficience intellectuelle associée au chromosome 16	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
986591000172118	syndrome ATR associé au chromosome 16	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1005791000172114	syndrome d'alpha-thalassémie-déficience intellectuelle associée au chromosome 16	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3382281001000119	Alpha-Thalassämie-Intelligenzminderung-Syndrom, gekoppelt an Chr. 16	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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