734349003: syndroom van alfathalassemie en verstandelijke beperking gelinkt aan chromosoom 16 (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)\...
• \Congenital anemia\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)
• \Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Alpha thalassemia (disorder)\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)
• \Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\...
• \Congenital anemia\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)
• \Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Alpha thalassemia (disorder)\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\...
• \Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Alpha thalassemia (disorder)\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)
• \Anemia\Congenital anemia\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)
• \Anemia\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Alpha thalassemia (disorder)\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)
• \Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Alpha thalassemia (disorder)\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)
• \Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassemia\Alpha thalassemia (disorder)\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)
• \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)\Congenital anemia\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)
• \Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Alpha thalassemia (disorder)\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)
• \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\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)
• \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 (disorder)
• \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 (disorder)
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Alpha thalassemia (disorder)\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)
• \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 (disorder)
• \Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)
• \Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Alpha thalassemia (disorder)\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)
• \Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Congenital anemia\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)
• \Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)
• \Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Alpha thalassemia (disorder)\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)
• \Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)
• \Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Alpha thalassemia (disorder)\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Alpha thalassemia (disorder)\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Alpha thalassemia (disorder)\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (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 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (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 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital anemia\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Alpha thalassemia (disorder)\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\Anemia\Congenital anemia\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\Anemia\Anemia due to disturbance of hemoglobin synthesis\Thalassemia\Alpha thalassemia (disorder)\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Alpha thalassemia (disorder)\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassemia\Alpha thalassemia (disorder)\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)
• \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 (disorder)
• \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 (disorder)
• \Disease\Disorder of body system\Hematological disorder (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Alpha thalassemia (disorder)\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)
• \Disease\Disorder of body system\Hematological disorder (disorder)\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Thalassemia\Alpha thalassemia (disorder)\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Thalassemia\Alpha thalassemia (disorder)\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)
• \Disease\Developmental disorder\Congenital malformation\Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder)

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
6710221000146118	syndroom van alfathalassemie en mentale retardatie gelinkt aan chromosoom 16	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6710231000146116	ATR-16-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6906341000146112	ATR-syndroom deletie-type	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7496331000146117	syndroom van alfathalassemie en verstandelijke beperking gelinkt aan chromosoom 16 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7718401000146112	syndroom van alfathalassemie en verstandelijke beperking gelinkt aan chromosoom 16	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7854181000146110	syndroom van alfathalassemie en verstandelijke handicap gekoppeld aan chromosoom 16	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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

Expanded Value Set

This concept is not in any reference sets

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