1356735003: Oculogastrointestinal neurodevelopmental syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Oculogastrointestinal neurodevelopmental syndrome
• \Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Oculogastrointestinal neurodevelopmental syndrome
• \Developmental disorder\Neurodevelopmental disorder\Oculogastrointestinal neurodevelopmental syndrome
• \Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Oculogastrointestinal neurodevelopmental syndrome
• \Developmental disorder\Developmental delay\Global developmental delay\Oculogastrointestinal neurodevelopmental syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jan 2025. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5428963018	Oculogastrointestinal neurodevelopmental syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5428964012	OGIN syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5428965013	Oculogastrointestinal neurodevelopmental syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5428966014	A rare multiple congenital anomalies/dysmorphic syndrome characterised by eye abnormalities (including unilateral/bilateral microphthalmia, coloboma, unilateral ptosis and lens opacity) in addition to failure to thrive, renal anomalies (mainly horseshoe kidney, however ureteral-pelvic junction dysfunction and vesicoureteral reflux were also reported), imperforate anus and global developmental delay. Majority of the patients also present with hearing impairment, cardiac anomalies and dysmorphic features (triangular face, hypoplastic alae nasi, beaked nose, and small pointed chin).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5428967017	A rare multiple congenital anomalies/dysmorphic syndrome characterized by eye abnormalities (including unilateral/bilateral microphthalmia, coloboma, unilateral ptosis and lens opacity) in addition to failure to thrive, renal anomalies (mainly horseshoe kidney, however ureteral-pelvic junction dysfunction and vesicoureteral reflux were also reported), imperforate anus and global developmental delay. Majority of the patients also present with hearing impairment, cardiac anomalies and dysmorphic features (triangular face, hypoplastic alae nasi, beaked nose, and small pointed chin).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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Reference Sets

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

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