732262003: Marfanoid syndrome De Silva type (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Marfanoid syndrome De Silva type (disorder)
• \Finding of general observation of appearance\Physique finding\Marfanoid physique (finding)\Marfanoid syndrome De Silva type (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Marfanoid syndrome De Silva type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Marfanoid syndrome De Silva type (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Marfanoid syndrome De Silva type (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Marfanoid syndrome De Silva type (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
3465115018	Marfanoid syndrome De Silva type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3465116017	Marfanoid syndrome De Silva type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5403629012	A rare syndromic intestinal malformation characterized by the association of marfanoid features (including marfanoid habitus, severe myopia, retinal detachment, and mitral valve prolapse) with visceral diverticula (inguinal and/or femoral hernia and diverticula of the large and small bowel or urinary bladder). Some patients also had diaphragmatic eventration. There have been no further descriptions in the literature since 1996.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403630019	A rare syndromic intestinal malformation characterised by the association of marfanoid features (including marfanoid habitus, severe myopia, retinal detachment, and mitral valve prolapse) with visceral diverticula (inguinal and/or femoral hernia and diverticula of the large and small bowel or urinary bladder). Some patients also had diaphragmatic eventration. There have been no further descriptions in the literature since 1996.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3465115018	Marfanoid syndrome De Silva type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3465116017	Marfanoid syndrome De Silva type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3465117014	Syndrome that is characterized by the association of marfanoid habitus with visceral diverticula. It has been reported in four adults and two siblings from a consanguineous marriage in two different publications. Pediatric cases also presented with diaphragmatic hernia. Other connective tissue disorders with visceral diverticula have been reported previously, suggesting a relationship between these two conditions.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3465118016	Syndrome that is characterised by the association of marfanoid habitus with visceral diverticula. It has been reported in four adults and two siblings from a consanguineous marriage in two different publications. Paediatric cases also presented with diaphragmatic hernia. Other connective tissue disorders with visceral diverticula have been reported previously, suggesting a relationship between these two conditions.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403629012	A rare syndromic intestinal malformation characterized by the association of marfanoid features (including marfanoid habitus, severe myopia, retinal detachment, and mitral valve prolapse) with visceral diverticula (inguinal and/or femoral hernia and diverticula of the large and small bowel or urinary bladder). Some patients also had diaphragmatic eventration. There have been no further descriptions in the literature since 1996.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403630019	A rare syndromic intestinal malformation characterised by the association of marfanoid features (including marfanoid habitus, severe myopia, retinal detachment, and mitral valve prolapse) with visceral diverticula (inguinal and/or femoral hernia and diverticula of the large and small bowel or urinary bladder). Some patients also had diaphragmatic eventration. There have been no further descriptions in the literature since 1996.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3436651001000114	Marfanoides-Syndrom vom Typ de Silva	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1014481000172116	syndrome marfanoïde type de Silva	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1014481000172116	syndrome marfanoïde type de Silva	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3436651001000114	Marfanoides-Syndrom vom Typ de Silva	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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