718551002: Moyamoya disease with early onset achalasia (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Finding of oesophagus\Disorder of oesophagus\Oesophageal dysmotility\Achalasia of oesophagus\Moyamoya disease with early onset achalasia
\Viscus structure finding\Abdominal organ finding\Stomach finding\Disorder of stomach\Achalasia of oesophagus\Moyamoya disease with early onset achalasia

\Digestive system finding\Gastrointestinal tract finding\Finding of oesophagus\Disorder of oesophagus\Oesophageal dysmotility\Achalasia of oesophagus\Moyamoya disease with early onset achalasia
\Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Disorder of upper gastrointestinal tract\Disorder of oesophagus\Oesophageal dysmotility\Achalasia of oesophagus\Moyamoya disease with early onset achalasia
\Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Disorder of upper gastrointestinal tract\Disorder of stomach\Achalasia of oesophagus\Moyamoya disease with early onset achalasia
\Digestive system finding\Gastrointestinal tract finding\Stomach finding\Disorder of stomach\Achalasia of oesophagus\Moyamoya disease with early onset achalasia
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Moyamoya disease with early onset achalasia
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of upper gastrointestinal tract\Disorder of oesophagus\Oesophageal dysmotility\Achalasia of oesophagus\Moyamoya disease with early onset achalasia
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of upper gastrointestinal tract\Disorder of stomach\Achalasia of oesophagus\Moyamoya disease with early onset achalasia
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disorder of upper gastrointestinal tract\Disorder of oesophagus\Oesophageal dysmotility\Achalasia of oesophagus\Moyamoya disease with early onset achalasia
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disorder of upper gastrointestinal tract\Disorder of stomach\Achalasia of oesophagus\Moyamoya disease with early onset achalasia
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Disorder of oesophagus\Oesophageal dysmotility\Achalasia of oesophagus\Moyamoya disease with early onset achalasia
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Disorder of stomach\Achalasia of oesophagus\Moyamoya disease with early onset achalasia

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of stomach\Achalasia of oesophagus\Moyamoya disease with early onset achalasia
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Stomach finding\Disorder of stomach\Achalasia of oesophagus\Moyamoya disease with early onset achalasia
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of stomach\Achalasia of oesophagus\Moyamoya disease with early onset achalasia
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of stomach\Achalasia of oesophagus\Moyamoya disease with early onset achalasia

\Central nervous system finding\Finding of brain\Encephalopathy\Moyamoya disease\Moyamoya disease with early onset achalasia
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Moyamoya disease\Moyamoya disease with early onset achalasia

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

\Finding of brain\Encephalopathy\Moyamoya disease\Moyamoya disease with early onset achalasia

\Disorder of head\Encephalopathy\Moyamoya disease\Moyamoya disease with early onset achalasia

\Cardiovascular finding\Cardiovascular disease\...

\Cardiovascular system hereditary disorder\Moyamoya disease with early onset achalasia

\Cerebrovascular disease\Moyamoya disease\Moyamoya disease with early onset achalasia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Moyamoya disease with early onset achalasia
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Moyamoya disease with early onset achalasia
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Moyamoya disease with early onset achalasia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Moyamoya disease with early onset achalasia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Moyamoya disease with early onset achalasia
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Moyamoya disease with early onset achalasia
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Moyamoya disease with early onset achalasia
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Moyamoya disease with early onset achalasia
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Moyamoya disease\Moyamoya disease with early onset achalasia
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Moyamoya disease with early onset achalasia
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of upper gastrointestinal tract\Disorder of oesophagus\Oesophageal dysmotility\Achalasia of oesophagus\Moyamoya disease with early onset achalasia
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of upper gastrointestinal tract\Disorder of stomach\Achalasia of oesophagus\Moyamoya disease with early onset achalasia
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disorder of upper gastrointestinal tract\Disorder of oesophagus\Oesophageal dysmotility\Achalasia of oesophagus\Moyamoya disease with early onset achalasia
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disorder of upper gastrointestinal tract\Disorder of stomach\Achalasia of oesophagus\Moyamoya disease with early onset achalasia
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Disorder of oesophagus\Oesophageal dysmotility\Achalasia of oesophagus\Moyamoya disease with early onset achalasia
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Disorder of stomach\Achalasia of oesophagus\Moyamoya disease with early onset achalasia
\Disease\Disorder of body system\Cardiovascular disease\Cardiovascular system hereditary disorder\Moyamoya disease with early onset achalasia
\Disease\Disorder of body system\Cardiovascular disease\Cerebrovascular disease\Moyamoya disease\Moyamoya disease with early onset achalasia
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of stomach\Achalasia of oesophagus\Moyamoya disease with early onset achalasia
\Disease\Disorder of head\Encephalopathy\Moyamoya disease\Moyamoya disease with early onset achalasia

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

Descriptions:

Id Description Lang Type Status Case? Module

3312727019 Moyamoya disease with early onset achalasia (disorder) en Fully specified name Active Case sensitive SNOMED CT core

3312728012 Moyamoya disease with early onset achalasia en Synonym Active Case sensitive SNOMED CT core

3312802015 An exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It has characteristics of the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with Moyamoya angiopathy in most cases. Other variable associated manifestations include hypertension, Raynaud phenomenon and livedo reticularis. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Moyamoya disease with early onset achalasia	Is a	Achalasia of oesophagus	true	Inferred relationship	Some
Moyamoya disease with early onset achalasia	Is a	Moyamoya disease	true	Inferred relationship	Some
Moyamoya disease with early onset achalasia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Moyamoya disease with early onset achalasia	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Moyamoya disease with early onset achalasia	Is a	Digestive system hereditary disorder	true	Inferred relationship	Some
Moyamoya disease with early onset achalasia	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Moyamoya disease with early onset achalasia	Occurrence	Infancy	true	Inferred relationship	Some	2
Moyamoya disease with early onset achalasia	Finding site	Brain structure	true	Inferred relationship	Some	5
Moyamoya disease with early onset achalasia	Finding site	Cardio-oesophageal junction structure	true	Inferred relationship	Some	3
Moyamoya disease with early onset achalasia	Finding site	Cerebrovascular system structure	true	Inferred relationship	Some	4
Moyamoya disease with early onset achalasia	Finding site	Oesophageal structure	false	Inferred relationship	Some	1
Moyamoya disease with early onset achalasia	Has interpretation	Abnormal	true	Inferred relationship	Some	1
Moyamoya disease with early onset achalasia	Interprets	Motility	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3312727019	Moyamoya disease with early onset achalasia (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3312728012	Moyamoya disease with early onset achalasia	en	Synonym	Active	Case sensitive	SNOMED CT core
3312802015	An exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It has characteristics of the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with Moyamoya angiopathy in most cases. Other variable associated manifestations include hypertension, Raynaud phenomenon and livedo reticularis.	en	Definition	Active	Case sensitive	SNOMED CT core