1388880007: Multiple congenital anomalies, neurodevelopmental delay, ocular abnormalities syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Abnormal behavior\Intellectual disability\Genetic intellectual disability\Multiple congenital anomalies, neurodevelopmental delay, ocular abnormalities syndrome
• \Eye / vision finding\Visual system disorder\...
• \Hereditary disorder of the visual system (disorder)\Multiple congenital anomalies, neurodevelopmental delay, ocular abnormalities syndrome
• \Congenital anomaly of visual system\Multiple congenital anomalies, neurodevelopmental delay, ocular abnormalities syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Genetic intellectual disability\Multiple congenital anomalies, neurodevelopmental delay, ocular abnormalities syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\Multiple congenital anomalies, neurodevelopmental delay, ocular abnormalities syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\Multiple congenital anomalies, neurodevelopmental delay, ocular abnormalities syndrome
• \Disease\Genetic disease\Genetic intellectual disability\Multiple congenital anomalies, neurodevelopmental delay, ocular abnormalities syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Multiple congenital anomalies, neurodevelopmental delay, ocular abnormalities syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Multiple congenital anomalies, neurodevelopmental delay, ocular abnormalities syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Multiple congenital anomalies, neurodevelopmental delay, ocular abnormalities syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple congenital anomalies, neurodevelopmental delay, ocular abnormalities syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Multiple congenital anomalies, neurodevelopmental delay, ocular abnormalities syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Multiple congenital anomalies, neurodevelopmental delay, ocular abnormalities syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Multiple congenital anomalies, neurodevelopmental delay, ocular abnormalities syndrome
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Multiple congenital anomalies, neurodevelopmental delay, ocular abnormalities syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Genetic intellectual disability\Multiple congenital anomalies, neurodevelopmental delay, ocular abnormalities syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Multiple congenital anomalies, neurodevelopmental delay, ocular abnormalities syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple congenital anomalies, neurodevelopmental delay, ocular abnormalities syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Multiple congenital anomalies, neurodevelopmental delay, ocular abnormalities syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2026. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
6156330015	Multiple congenital anomalies, neurodevelopmental delay, ocular abnormalities syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6156331016	PRR12 gene related neuro-ocular syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6156332011	Multiple congenital anomalies, neurodevelopmental delay, ocular abnormalities syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6156333018	A rare multiple congenital anomalies/dysmorphic syndrome characterized by neurodevelopmental delay, intellectual disability, variable structural eye defects including anophthalmia, microphthalmia, coloboma, optic nerve and iris abnormalities. Hypotonia and heart defects are present in the majority of patients. Additional variable clinical features may include growth failure, skeletal abnormalities, kidney anomalies, sleeping problems and behavioral disturbances such as autism and anxiety.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6156334012	A rare multiple congenital anomalies/dysmorphic syndrome characterised by neurodevelopmental delay, intellectual disability, variable structural eye defects including anophthalmia, microphthalmia, coloboma, optic nerve and iris abnormalities. Hypotonia and heart defects are present in the majority of patients. Additional variable clinical features may include growth failure, skeletal abnormalities, kidney anomalies, sleeping problems and behavioural disturbances such as autism and anxiety.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

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