726708009: Familial isolated congenital asplenia (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Abdominal organ finding\Disorder of spleen\...
• \Asplenia (disorder)\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Congenital anomaly of spleen\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of spleen\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Congenital anomaly of abdomen\Congenital anomaly of spleen\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of spleen\Asplenia (disorder)\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of spleen\Congenital anomaly of spleen\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Disorder of spleen\Asplenia (disorder)\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Disorder of spleen\Congenital anomaly of spleen\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Congenital anomaly of abdomen\Congenital anomaly of spleen\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of spleen\Asplenia (disorder)\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of spleen\Congenital anomaly of spleen\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of spleen\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Congenital anomaly of abdomen\Congenital anomaly of spleen\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of spleen\Asplenia (disorder)\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of spleen\Congenital anomaly of spleen\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of spleen\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Familial isolated congenital asplenia (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Familial isolated congenital asplenia (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Familial isolated congenital asplenia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of spleen\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of spleen\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of the haematopoietic system\Congenital anomaly of spleen\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Disease\Disorder of body system\Disorder of immune structure\Disorder of lymphoid system (disorder)\Disorder of spleen\Asplenia (disorder)\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Disease\Disorder of body system\Disorder of immune structure\Disorder of lymphoid system (disorder)\Disorder of spleen\Congenital anomaly of spleen\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Disorder of lymphoid system (disorder)\Disorder of spleen\Asplenia (disorder)\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Disorder of lymphoid system (disorder)\Disorder of spleen\Congenital anomaly of spleen\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Congenital anomaly of the haematopoietic system\Congenital anomaly of spleen\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Familial isolated congenital asplenia (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of spleen\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Congenital anomaly of abdomen\Congenital anomaly of spleen\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of spleen\Asplenia (disorder)\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of spleen\Congenital anomaly of spleen\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of spleen\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Disease\Familial disease\Familial isolated congenital asplenia (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Familial isolated congenital asplenia (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of spleen\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of spleen\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of the haematopoietic system\Congenital anomaly of spleen\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3451940015	Familial isolated congenital asplenia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3451941016	Familial isolated congenital asplenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5403589019	Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403590011	Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterised by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3451940015	Familial isolated congenital asplenia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3451941016	Familial isolated congenital asplenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3451942011	A rare non-syndromic potentially life-threatening visceral malformation with the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings. There is evidence this disorder is caused by heterozygous mutation in the RPSA gene on chromosome 3p21.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403589019	Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403590011	Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterised by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3397031001000113	Asplenie, familiäre isolierte, kongenitale	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
963561000172119	asplénie congénitale familiale isolée	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
963561000172119	asplénie congénitale familiale isolée	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3397031001000113	Asplenie, familiäre isolierte, kongenitale	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

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

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