725138002: Perineal hemangioma, external genitalia malformation, lipomyelomeningocele, vesicorenal abnormality, imperforate anus syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mass of body structure\Mass of soft tissue (finding)\Neoplasm of soft tissue (disorder)\Benign neoplasm of soft tissue (disorder)\Congenital hemangioma\A disorder defining by the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.
• \Mass of body structure\Mass of cardiovascular structure\Neoplasm of cardiovascular system (disorder)\Congenital hemangioma\A disorder defining by the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.
• \General finding of soft tissue\Mass of soft tissue (finding)\Neoplasm of soft tissue (disorder)\Benign neoplasm of soft tissue (disorder)\Congenital hemangioma\A disorder defining by the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.
• \General finding of soft tissue\Blood vessel finding\Vascular disorder\Congenital vascular disorder (disorder)\Congenital hemangioma\A disorder defining by the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.
• \General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Neoplasm of soft tissue (disorder)\Benign neoplasm of soft tissue (disorder)\Congenital hemangioma\A disorder defining by the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.
• \General finding of soft tissue\Disorder of soft tissue\Vascular disorder\Congenital vascular disorder (disorder)\Congenital hemangioma\A disorder defining by the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.
• \Cardiovascular finding\Mass of cardiovascular structure\Neoplasm of cardiovascular system (disorder)\Congenital hemangioma\A disorder defining by the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder (disorder)\Congenital hemangioma\A disorder defining by the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Neoplasm of cardiovascular system (disorder)\Congenital hemangioma\A disorder defining by the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\Vascular disorder\Congenital vascular disorder (disorder)\Congenital hemangioma\A disorder defining by the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.
• \Cardiovascular finding\Blood vessel finding\Vascular disorder\Congenital vascular disorder (disorder)\Congenital hemangioma\A disorder defining by the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder (disorder)\Congenital hemangioma\A disorder defining by the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\A disorder defining by the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.
• \Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of cardiovascular system (disorder)\Congenital hemangioma\A disorder defining by the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.
• \Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of soft tissue (disorder)\Benign neoplasm of soft tissue (disorder)\Congenital hemangioma\A disorder defining by the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.
• \Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Benign neoplastic disease (disorder)\Hemangioma (disorder)\Congenital hemangioma\A disorder defining by the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.
• \Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Benign neoplastic disease (disorder)\Benign neoplasm of soft tissue (disorder)\Congenital hemangioma\A disorder defining by the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder (disorder)\Congenital hemangioma\A disorder defining by the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Neoplasm of cardiovascular system (disorder)\Congenital hemangioma\A disorder defining by the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Vascular disorder\Congenital vascular disorder (disorder)\Congenital hemangioma\A disorder defining by the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.
• \Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Neoplasm of soft tissue (disorder)\Benign neoplasm of soft tissue (disorder)\Congenital hemangioma\A disorder defining by the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.
• \Disease\Disorder of soft tissue\Vascular disorder\Congenital vascular disorder (disorder)\Congenital hemangioma\A disorder defining by the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\A disorder defining by the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.

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
5403409015	A disorder defining by the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5429971014	A disorder defining by the association of Perineal haemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3439336012	Perineal hemangioma, external genitalia malformation, lipomyelomeningocele, vesicorenal abnormality, imperforate anus syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3439337015	PELVIS syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3439338013	PELVIS (perineal hemangioma, external genitalia malformation, lipomyelomeningocele, vesicorenal abnormality, imperforate anus) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3439339017	Perineal hemangioma, external genitalia malformation, lipomyelomeningocele, vesicorenal abnormality, imperforate anus syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3439340015	PELVIS (Perineal haemangioma, external genitalia malformation, lipomyelomeningocele, vesicorenal abnormality, imperforate anus) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3439341016	Perineal haemangioma, external genitalia malformation, lipomyelomeningocele, vesicorenal abnormality, imperforate anus syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1013651000241115	syndrome d'hémangiome périnéal, malformations génitales externes, lipomyéloméningocèle, anomalies vésicorénales, imperforation anale, acrochordon	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3419561001000113	LUMBAR-Syndrom	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)

Description inactivation indicator reference set

Back to Start