722060007: Oculogastrointestinal muscular dystrophy (disorder)

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

\Viscus structure finding (finding)\Abdominal organ finding\Bowel finding\Disease of intestine\...

\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 (finding)\Gastrointestinal tract finding (finding)\Bowel finding\Disease of intestine\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Bowel finding\Disease of intestine\Functional disorder of intestine\Motility disorder of intestine\Pseudo-obstruction of intestine\Oculogastrointestinal muscular dystrophy
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Pseudo-obstruction of gastrointestinal tract\Pseudo-obstruction of intestine\Oculogastrointestinal muscular dystrophy
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Congenital anomaly of gastrointestinal tract\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Disease of intestine\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Disease of intestine\Functional disorder of intestine\Motility disorder of intestine\Pseudo-obstruction of intestine\Oculogastrointestinal muscular dystrophy
\Digestive system finding (finding)\Disease of digestive system (disorder)\Digestive system hereditary disorder\Oculogastrointestinal muscular dystrophy
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of gastrointestinal tract (disorder)\Pseudo-obstruction of gastrointestinal tract\Pseudo-obstruction of intestine\Oculogastrointestinal muscular dystrophy
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of gastrointestinal tract (disorder)\Congenital anomaly of gastrointestinal tract\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of gastrointestinal tract (disorder)\Disease of intestine\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of gastrointestinal tract (disorder)\Disease of intestine\Functional disorder of intestine\Motility disorder of intestine\Pseudo-obstruction of intestine\Oculogastrointestinal muscular dystrophy
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Congenital anomaly of digestive organ (disorder)\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Disease of intestine\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Disease of intestine\Functional disorder of intestine\Motility disorder of intestine\Pseudo-obstruction of intestine\Oculogastrointestinal muscular dystrophy
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive organ (disorder)\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy

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

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

\Hereditary disorder of the visual system (disorder)\Oculogastrointestinal muscular dystrophy

\Congenital anomaly of visual system\Oculogastrointestinal muscular dystrophy

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Oculogastrointestinal muscular dystrophy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\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 foetus and/or newborn\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive organ (disorder)\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive organ (disorder)\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of body system\Disease of digestive system (disorder)\Digestive system hereditary disorder\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of gastrointestinal tract (disorder)\Pseudo-obstruction of gastrointestinal tract\Pseudo-obstruction of intestine\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of gastrointestinal tract (disorder)\Congenital anomaly of gastrointestinal tract\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of gastrointestinal tract (disorder)\Disease of intestine\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of gastrointestinal tract (disorder)\Disease of intestine\Functional disorder of intestine\Motility disorder of intestine\Pseudo-obstruction of intestine\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Congenital anomaly of digestive organ (disorder)\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Disease of intestine\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Disease of intestine\Functional disorder of intestine\Motility disorder of intestine\Pseudo-obstruction of intestine\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive organ (disorder)\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Congenital anomaly of abdomen\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disease of intestine\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disease of intestine\Functional disorder of intestine\Motility disorder of intestine\Pseudo-obstruction of intestine\Oculogastrointestinal muscular dystrophy
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Oculogastrointestinal muscular dystrophy
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of visual system\Oculogastrointestinal muscular dystrophy
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive organ (disorder)\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Congenital anomaly of intestinal tract\Oculogastrointestinal muscular dystrophy

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core

3330423017 Oculogastrointestinal muscular dystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3330424011 Visceral myopathy with familial external ophthalmoplegia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5402807015 Oculogastrointestinal muscular dystrophy is 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 Entire term case sensitive (core metadata concept) SNOMED CT core

5402808013 Oculogastrointestinal muscular dystrophy is 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 Entire term case sensitive (core metadata concept) SNOMED CT core

3330422010 Oculogastrointestinal muscular dystrophy (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3330422010 Oculogastrointestinal muscular dystrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3330423017 Oculogastrointestinal muscular dystrophy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3330423017 Oculogastrointestinal muscular dystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3330424011 Visceral myopathy with familial external ophthalmoplegia syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3330424011 Visceral myopathy with familial external ophthalmoplegia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

5402807015 Oculogastrointestinal muscular dystrophy is 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 Entire term case sensitive (core metadata concept) SNOMED CT core

5402808013 Oculogastrointestinal muscular dystrophy is 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 Entire term case sensitive (core metadata concept) SNOMED CT core

602001000274112 Familiäre viszerale Myopathie mit externer Ophtalmoplegie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3381101001000114 Okulo-gastro-intestinale Muskeldystrophie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

901021000172115 syndrome de myopathie viscérale familiale, ophtalmoplégie externe fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

952281000172113 dystrophie musculaire oculo-gastro-intestinale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

901021000172115 syndrome de myopathie viscérale familiale, ophtalmoplégie externe fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

952281000172113 dystrophie musculaire oculo-gastro-intestinale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

602001000274112 Familiäre viszerale Myopathie mit externer Ophtalmoplegie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3381101001000114 Okulo-gastro-intestinale Muskeldystrophie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Oculogastrointestinal muscular dystrophy	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Oculogastrointestinal muscular dystrophy	Is a	Congenital anomaly of visual system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Oculogastrointestinal muscular dystrophy	Is a	Motility disorder of intestine	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Oculogastrointestinal muscular dystrophy	Is a	Pseudo-obstruction of intestine	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Oculogastrointestinal muscular dystrophy	Is a	Digestive system hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Oculogastrointestinal muscular dystrophy	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Oculogastrointestinal muscular dystrophy	Associated morphology	Pseudo-obstruction	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Oculogastrointestinal muscular dystrophy	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Oculogastrointestinal muscular dystrophy	Finding site	Intestinal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Oculogastrointestinal muscular dystrophy	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Oculogastrointestinal muscular dystrophy	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Oculogastrointestinal muscular dystrophy	Finding site	The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Oculogastrointestinal muscular dystrophy	Is a	Congenital anomaly of intestinal tract	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Oculogastrointestinal muscular dystrophy	Finding site	The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Oculogastrointestinal muscular dystrophy	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Oculogastrointestinal muscular dystrophy	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Oculogastrointestinal muscular dystrophy	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Oculogastrointestinal muscular dystrophy	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Oculogastrointestinal muscular dystrophy	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3330422010	Oculogastrointestinal muscular dystrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330423017	Oculogastrointestinal muscular dystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330424011	Visceral myopathy with familial external ophthalmoplegia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5402807015	Oculogastrointestinal muscular dystrophy is 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402808013	Oculogastrointestinal muscular dystrophy is 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3330422010	Oculogastrointestinal muscular dystrophy (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3330422010	Oculogastrointestinal muscular dystrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330423017	Oculogastrointestinal muscular dystrophy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3330423017	Oculogastrointestinal muscular dystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330424011	Visceral myopathy with familial external ophthalmoplegia syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3330424011	Visceral myopathy with familial external ophthalmoplegia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402807015	Oculogastrointestinal muscular dystrophy is 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402808013	Oculogastrointestinal muscular dystrophy is 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
602001000274112	Familiäre viszerale Myopathie mit externer Ophtalmoplegie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3381101001000114	Okulo-gastro-intestinale Muskeldystrophie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
901021000172115	syndrome de myopathie viscérale familiale, ophtalmoplégie externe	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
952281000172113	dystrophie musculaire oculo-gastro-intestinale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
901021000172115	syndrome de myopathie viscérale familiale, ophtalmoplégie externe	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
952281000172113	dystrophie musculaire oculo-gastro-intestinale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
602001000274112	Familiäre viszerale Myopathie mit externer Ophtalmoplegie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3381101001000114	Okulo-gastro-intestinale Muskeldystrophie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module