722060007: Oculogastrointestinal muscular dystrophy (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Abdominal organ finding\Bowel finding\Intestinal disease\...

\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy

\Functional disorder of intestine\Motility disorder of intestine\Pseudo-obstruction of intestine\Oculogastrointestinal muscular dystrophy

\Digestive system finding\Gastrointestinal tract finding\Bowel finding\Intestinal disease\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Digestive system finding\Gastrointestinal tract finding\Bowel finding\Intestinal disease\Functional disorder of intestine\Motility disorder of intestine\Pseudo-obstruction of intestine\Oculogastrointestinal muscular dystrophy
\Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Pseudo-obstruction of gastrointestinal tract\Pseudo-obstruction of intestine\Oculogastrointestinal muscular dystrophy
\Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Functional disorder of intestine\Motility disorder of intestine\Pseudo-obstruction of intestine\Oculogastrointestinal muscular dystrophy
\Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Oculogastrointestinal muscular dystrophy
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Pseudo-obstruction of gastrointestinal tract\Pseudo-obstruction of intestine\Oculogastrointestinal muscular dystrophy
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Functional disorder of intestine\Motility disorder of intestine\Pseudo-obstruction of intestine\Oculogastrointestinal muscular dystrophy
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Congenital anomaly of digestive organ\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Intestinal disease\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Intestinal disease\Functional disorder of intestine\Motility disorder of intestine\Pseudo-obstruction of intestine\Oculogastrointestinal muscular dystrophy
\Digestive system finding\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Digestive system finding\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Functional disorder of intestine\Motility disorder of intestine\Pseudo-obstruction of intestine\Oculogastrointestinal muscular dystrophy
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Bowel finding\Intestinal disease\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Bowel finding\Intestinal disease\Functional disorder of intestine\Motility disorder of intestine\Pseudo-obstruction of intestine\Oculogastrointestinal muscular dystrophy
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Functional disorder of intestine\Motility disorder of intestine\Pseudo-obstruction of intestine\Oculogastrointestinal muscular dystrophy
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of lower gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Functional disorder of intestine\Motility disorder of intestine\Pseudo-obstruction of intestine\Oculogastrointestinal muscular dystrophy
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy

\Eye / vision finding\Visual system disorder\...

\Hereditary disorder of the visual system\Oculogastrointestinal muscular dystrophy

\Congenital anomaly of visual system\Oculogastrointestinal muscular dystrophy

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Oculogastrointestinal muscular dystrophy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Oculogastrointestinal muscular dystrophy
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Oculogastrointestinal muscular dystrophy
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Pseudo-obstruction of gastrointestinal tract\Pseudo-obstruction of intestine\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Intestinal disease\Functional disorder of intestine\Motility disorder of intestine\Pseudo-obstruction of intestine\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of lower gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Congenital anomaly of digestive organ\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Intestinal disease\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Intestinal disease\Functional disorder of intestine\Motility disorder of intestine\Pseudo-obstruction of intestine\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Intestinal disease\Functional disorder of intestine\Motility disorder of intestine\Pseudo-obstruction of intestine\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of lower gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Oculogastrointestinal muscular dystrophy
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Disease\Developmental disorder\Developmental hereditary disorder\Oculogastrointestinal muscular dystrophy
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Oculogastrointestinal muscular dystrophy
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of lower alimentary tract\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy

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

Descriptions:

Id Description Lang Type Status Case? Module

3330422010 Oculogastrointestinal muscular dystrophy (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3330423017 Oculogastrointestinal muscular dystrophy en Synonym Active Case insensitive SNOMED CT core

3330424011 Visceral myopathy with familial external ophthalmoplegia syndrome en Synonym Active Case insensitive SNOMED CT core

3330425012 An extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrition and intestinal pseudo-obstruction. en Definition Active Case sensitive SNOMED CT core

3330426013 An extremely rare autosomal recessively inherited neuromuscular disease characterised by ocular manifestations such as ptosis and diplopia followed by chronic diarrhoea, malnutrition and intestinal pseudo-obstruction. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Oculogastrointestinal muscular dystrophy	Is a	Congenital anomaly of intestinal tract	true	Inferred relationship	Some
Oculogastrointestinal muscular dystrophy	Finding site	Structure of visual system	true	Inferred relationship	Some	1
Oculogastrointestinal muscular dystrophy	Occurrence	Congenital	true	Inferred relationship	Some	1
Oculogastrointestinal muscular dystrophy	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Oculogastrointestinal muscular dystrophy	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Oculogastrointestinal muscular dystrophy	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Oculogastrointestinal muscular dystrophy	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Oculogastrointestinal muscular dystrophy	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Oculogastrointestinal muscular dystrophy	Is a	Congenital anomaly of visual system	true	Inferred relationship	Some
Oculogastrointestinal muscular dystrophy	Is a	Motility disorder of intestine	false	Inferred relationship	Some
Oculogastrointestinal muscular dystrophy	Is a	Pseudo-obstruction of intestine	true	Inferred relationship	Some
Oculogastrointestinal muscular dystrophy	Is a	Digestive system hereditary disorder	true	Inferred relationship	Some
Oculogastrointestinal muscular dystrophy	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Oculogastrointestinal muscular dystrophy	Associated morphology	Pseudo-obstruction	true	Inferred relationship	Some	2
Oculogastrointestinal muscular dystrophy	Occurrence	Congenital	true	Inferred relationship	Some	2
Oculogastrointestinal muscular dystrophy	Finding site	Intestinal structure	true	Inferred relationship	Some	2
Oculogastrointestinal muscular dystrophy	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Oculogastrointestinal muscular dystrophy	Occurrence	Congenital	false	Inferred relationship	Some	3
Oculogastrointestinal muscular dystrophy	Finding site	Structure of visual system	false	Inferred relationship	Some	3

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
3330422010	Oculogastrointestinal muscular dystrophy (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3330423017	Oculogastrointestinal muscular dystrophy	en	Synonym	Active	Case insensitive	SNOMED CT core
3330424011	Visceral myopathy with familial external ophthalmoplegia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3330425012	An extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrition and intestinal pseudo-obstruction.	en	Definition	Active	Case sensitive	SNOMED CT core
3330426013	An extremely rare autosomal recessively inherited neuromuscular disease characterised by ocular manifestations such as ptosis and diplopia followed by chronic diarrhoea, malnutrition and intestinal pseudo-obstruction.	en	Definition	Active	Case sensitive	SNOMED CT core