93030006: Congenital absence of spleen (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Abdominal organ finding\Disorder of spleen\...

\Congenital or functional absence of spleen\Congenital absence of spleen

\Congenital anomaly of spleen\Congenital absence of spleen

\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
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital anomaly of spleen\Congenital absence of spleen
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of spleen\Congenital or functional absence of spleen\Congenital absence of spleen
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of spleen\Congenital anomaly of spleen\Congenital absence of spleen
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Disorder of spleen\Congenital or functional absence of spleen\Congenital absence of spleen
\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
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital anomaly of spleen\Congenital absence of spleen
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of spleen\Congenital or functional absence of spleen\Congenital absence of spleen
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of spleen\Congenital anomaly of spleen\Congenital absence of spleen
\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
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital anomaly of spleen\Congenital absence of spleen
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of spleen\Congenital or functional absence of spleen\Congenital absence of spleen
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of spleen\Congenital anomaly of spleen\Congenital absence of spleen
\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

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of spleen\Congenital absence of spleen
\Disease\Fetal and/or neonatal disorder\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
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of the hematopoietic system\Congenital anomaly of spleen\Congenital absence of spleen
\Disease\Disorder of body system\Disorder of immune structure (disorder)\Disorder of lymphoid system (disorder)\Disorder of spleen\Congenital or functional absence of spleen\Congenital absence of spleen
\Disease\Disorder of body system\Disorder of immune structure (disorder)\Disorder of lymphoid system (disorder)\Disorder of spleen\Congenital anomaly of spleen\Congenital absence of spleen
\Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Disorder of lymphoid system (disorder)\Disorder of spleen\Congenital or functional absence of spleen\Congenital absence of spleen
\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
\Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Congenital anomaly of the hematopoietic system\Congenital anomaly of spleen\Congenital absence of spleen
\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
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Congenital anomaly of abdomen\Congenital anomaly of spleen\Congenital absence of spleen
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of spleen\Congenital or functional absence of spleen\Congenital absence of spleen
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of spleen\Congenital anomaly of spleen\Congenital absence of spleen
\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
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle (disorder)\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of spleen\Congenital absence of spleen
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of spleen\Congenital absence of spleen
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of the hematopoietic system\Congenital anomaly of spleen\Congenital absence of spleen

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

153877013 Congenital absence of spleen en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

153878015 Congenital asplenia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

836678011 Congenital absence of spleen (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4706211000241119 absence congénitale de la rate fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital absence of spleen	Is a	Congenital anomaly of spleen	true	Inferred relationship	Some
Congenital absence of spleen	Finding site	Splenic structure	false	Inferred relationship	Some	2
Congenital absence of spleen	Occurrence	Congenital	false	Inferred relationship	Some
Congenital absence of spleen	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Congenital absence of spleen	Finding site	Structure of digestive system (body structure)	false	Inferred relationship	Some	1
Congenital absence of spleen	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital absence of spleen	Is a	Congenital malformation	false	Inferred relationship	Some
Congenital absence of spleen	Is a	Congenital anomaly of digestive system	false	Inferred relationship	Some
Congenital absence of spleen	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	2
Congenital absence of spleen	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Congenital absence of spleen	Finding site	Splenic structure	false	Inferred relationship	Some	1
Congenital absence of spleen	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Congenital absence of spleen	Finding site	Splenic structure	true	Inferred relationship	Some	1
Congenital absence of spleen	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital absence of spleen	Finding site	Splenic structure	false	Inferred relationship	Some	2
Congenital absence of spleen	Is a	Aplasia of spleen (disorder)	false	Inferred relationship	Some
Congenital absence of spleen	Is a	Congenital absence	false	Inferred relationship	Some
Congenital absence of spleen	Associated morphology	Congenital absence	false	Inferred relationship	Some	2
Congenital absence of spleen	Is a	Congenital or functional absence of spleen	true	Inferred relationship	Some
Congenital absence of spleen	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital absence of spleen	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital absence of spleen	Associated morphology	Agenesis (morphologic abnormality)	false	Inferred relationship	Some	1
Congenital absence of spleen	Finding site	Entire spleen (body structure)	false	Inferred relationship	Some	1
Congenital absence of spleen	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Functional asplenia	Is a	False	Congenital absence of spleen	Inferred relationship	Some
Bilateral right-sidedness sequence	Is a	False	Congenital absence of spleen	Inferred relationship	Some
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.	Is a	True	Congenital absence of spleen	Inferred relationship	Some
Agenesis of spleen	Is a	True	Congenital absence of spleen	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported.	Is a	True	Congenital absence of spleen	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
153877013	Congenital absence of spleen	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
153878015	Congenital asplenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
836678011	Congenital absence of spleen (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4706211000241119	absence congénitale de la rate	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module