733522005: Megalocornea with intellectual disability syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of head and neck region\Head finding (finding)\...

\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
\Finding of head region\Globe finding\Anterior segment finding (finding)\Corneal finding\Disorder of cornea\Congenital anomaly of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
\Finding of head region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
\Finding of head region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Megalocornea\Megalocornea with intellectual disability syndrome

\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Megalocornea\Megalocornea with intellectual disability syndrome

\Eye / vision finding\Globe finding\Anterior segment finding (finding)\Corneal finding\Disorder of cornea\Congenital anomaly of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
\Eye / vision finding\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
\Eye / vision finding\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly 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 anomaly of cornea\Megalocornea\Megalocornea with intellectual disability syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\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 body system\Hereditary disorder by system\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)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly 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 anomaly of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Congenital anomaly 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 anomaly of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
\Disease\Mental disorder\Developmental mental disorder\Intellectual disability\Megalocornea with intellectual disability syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Megalocornea with intellectual disability syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability\Megalocornea with intellectual disability syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Megalocornea with intellectual disability syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Megalocornea with intellectual disability syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly of cornea\Megalocornea\Megalocornea with intellectual disability syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital anomaly 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

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

4012941000052110 syndrom med megalokornea och intellektuell funktionsnedsättning sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Megalocornea with intellectual disability syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Megalocornea with intellectual disability syndrome	Is a	mental retardation	false	Inferred relationship	Some
Megalocornea with intellectual disability syndrome	Is a	Megalocornea	true	Inferred relationship	Some
Megalocornea with intellectual disability syndrome	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Megalocornea with intellectual disability syndrome	Associated morphology	medfödd förstoring	false	Inferred relationship	Some	1
Megalocornea with intellectual disability syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Megalocornea with intellectual disability syndrome	Finding site	Corneal structure	true	Inferred relationship	Some	1
Megalocornea with intellectual disability syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Megalocornea with intellectual disability syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Megalocornea with intellectual disability syndrome	Associated morphology	Enlargement (morphologic abnormality)	true	Inferred relationship	Some	1
Megalocornea with intellectual disability syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
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
4012941000052110	syndrom med megalokornea och intellektuell funktionsnedsättning	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)