733522005: Megalocornea with intellectual disability syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Megalocornea with intellectual disability syndrome

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

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

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

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

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Megalocornea with intellectual disability syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Megalocornea with intellectual disability syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Megalocornea with intellectual disability syndrome

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

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3499604011 Megalocornea with intellectual disability syndrome en Synonym Active Case insensitive SNOMED CT core

3499605012 Megalocornea with intellectual disability syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3499606013 MMR (megalocornea, mental retardation) syndrome en Synonym Active Case sensitive SNOMED CT core

3499607016 Neuhäuser syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Megalocornea with intellectual disability syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Megalocornea with intellectual disability syndrome	Associated morphology	Enlargement	true	Inferred relationship	Some	1
Megalocornea with intellectual disability syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Megalocornea with intellectual disability syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	2
Megalocornea with intellectual disability syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	2
Megalocornea with intellectual disability syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	3
Megalocornea with intellectual disability syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3
Megalocornea with intellectual disability syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Megalocornea with intellectual disability syndrome	Is a	Intellectual disability	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	true	Inferred relationship	Some
Megalocornea with intellectual disability syndrome	Associated morphology	Congenital enlargement	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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3499604011	Megalocornea with intellectual disability syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3499605012	Megalocornea with intellectual disability syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3499606013	MMR (megalocornea, mental retardation) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3499607016	Neuhäuser syndrome	en	Synonym	Active	Case sensitive	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	Case sensitive	SNOMED CT core