733522005: Megalocornea with intellectual disability syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Corneal finding\Disease of cornea (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Megalocornea with intellectual disability syndrome
• \Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Corneal finding\Disease of cornea (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
• \Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
• \Eye / vision finding\Globe finding (finding)\Anterior segment finding (finding)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Megalocornea with intellectual disability syndrome
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Megalocornea with intellectual disability syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Megalocornea with intellectual disability syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Megalocornea with intellectual disability syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Megalocornea with intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Megalocornea with intellectual disability syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Megalocornea with intellectual disability syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Megalocornea with intellectual disability syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Megalocornea with intellectual disability syndrome
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of anterior segment of eye (disorder)\Disease of cornea (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Megalocornea with intellectual disability syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Megalocornea with intellectual disability syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Megalocornea with intellectual disability syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea with intellectual disability syndrome

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
3499604011	Megalocornea with intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3499605012	Megalocornea with intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3499606013	MMR (megalocornea, mental retardation) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3499607016	Neuhäuser syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403819015	Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403820014	Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterised by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3499604011	Megalocornea with intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3499605012	Megalocornea with intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3499606013	MMR (megalocornea, mental retardation) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3499607016	Neuhäuser syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3500028012	A rare intellectual disability syndrome with most common characteristics of megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403819015	Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403820014	Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterised by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
539251000274112	Neuhäuser-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3407781001000118	Megalokornea-Intelligenzminderung-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5957121000241110	syndrome de mégalocornée et déficience intellectuelle	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5957121000241110	syndrome de mégalocornée et déficience intellectuelle	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
539251000274112	Neuhäuser-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3407781001000118	Megalokornea-Intelligenzminderung-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)

Back to Start