726708009: asplénie congénitale familiale isolée (trouble)

• SNOMED CT Concept\constatation clinique\...
• \Viscus structure finding (finding)\constatation à propos d'un organe abdominal\Disorder of spleen\...
• \Asplenia (disorder)\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Congenital anomaly of spleen (disorder)\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \constatation à propos d'une structure du tronc\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 (disorder)\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Congenital anomaly of abdomen\Congenital anomaly of spleen (disorder)\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of spleen\Asplenia (disorder)\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of spleen\Congenital anomaly of spleen (disorder)\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos d'un organe abdominal\Disorder of spleen\Asplenia (disorder)\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos d'un organe abdominal\Disorder of spleen\Congenital anomaly of spleen (disorder)\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Congenital anomaly of abdomen\Congenital anomaly of spleen (disorder)\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Disorder of spleen\Asplenia (disorder)\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Disorder of spleen\Congenital anomaly of spleen (disorder)\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of spleen (disorder)\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Congenital anomaly of abdomen\Congenital anomaly of spleen (disorder)\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of spleen\Asplenia (disorder)\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of spleen\Congenital anomaly of spleen (disorder)\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of spleen (disorder)\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Familial isolated congenital asplenia (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Familial isolated congenital asplenia (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Familial isolated congenital asplenia (disorder)
• \Disease\affection d'un système corporel\Disorder of immune structure (disorder)\Disorder of lymphoid system (disorder)\Disorder of spleen\Asplenia (disorder)\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Disease\affection d'un système corporel\Disorder of immune structure (disorder)\Disorder of lymphoid system (disorder)\Disorder of spleen\Congenital anomaly of spleen (disorder)\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Disease\affection d'un système corporel\affection du système hématopoïétique\Disorder of lymphoid system (disorder)\Disorder of spleen\Asplenia (disorder)\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Disease\affection d'un système corporel\affection du système hématopoïétique\Disorder of lymphoid system (disorder)\Disorder of spleen\Congenital anomaly of spleen (disorder)\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Disease\affection d'un système corporel\affection du système hématopoïétique\anomalie congénitale du système hématopoïétique\Congenital anomaly of spleen (disorder)\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Familial isolated congenital asplenia (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of spleen (disorder)\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Congenital anomaly of abdomen\Congenital anomaly of spleen (disorder)\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of spleen\Asplenia (disorder)\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of spleen\Congenital anomaly of spleen (disorder)\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of spleen (disorder)\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Disease\Familial disease\Familial isolated congenital asplenia (disorder)
• \Disease\Congenital disease\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of spleen (disorder)\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of spleen (disorder)\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Disease\Congenital disease\Congenital malformation\anomalie congénitale du système hématopoïétique\Congenital anomaly of spleen (disorder)\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Familial isolated congenital asplenia (disorder)
• \Disease\trouble du développement\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of spleen (disorder)\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of spleen (disorder)\Congenital absence of spleen\Familial isolated congenital asplenia (disorder)
• \Disease\trouble du développement\Congenital malformation\anomalie congénitale du système hématopoïétique\Congenital anomaly of spleen (disorder)\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
762351000241117	asplénie congénitale familiale isolée (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
963561000172119	asplénie congénitale familiale isolée	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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

Expanded Value Set

This concept is not in any reference sets

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