718551002: Moyamoya disease with early onset achalasia (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Finding of esophagus\Disorder of esophagus\Oesophageal dysmotility\Achalasia of esophagus\Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by 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.
• \Viscus structure finding (finding)\Abdominal organ finding\Stomach finding\Disorder of stomach\Achalasia of esophagus\Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by 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.
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Moyamoya disease\Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by 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.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Moyamoya disease\Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by 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.
• \Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Finding of esophagus\Disorder of esophagus\Oesophageal dysmotility\Achalasia of esophagus\Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by 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.
• \Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Disorder of upper gastrointestinal tract (disorder)\Disorder of esophagus\Oesophageal dysmotility\Achalasia of esophagus\Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by 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.
• \Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Disorder of upper gastrointestinal tract (disorder)\Disorder of stomach\Achalasia of esophagus\Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by 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.
• \Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Stomach finding\Disorder of stomach\Achalasia of esophagus\Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by 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.
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder\Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by 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.
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Disorder of upper gastrointestinal tract (disorder)\Disorder of esophagus\Oesophageal dysmotility\Achalasia of esophagus\Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by 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.
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Disorder of upper gastrointestinal tract (disorder)\Disorder of stomach\Achalasia of esophagus\Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by 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.
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Disorder of upper gastrointestinal tract (disorder)\Disorder of esophagus\Oesophageal dysmotility\Achalasia of esophagus\Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by 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.
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Disorder of upper gastrointestinal tract (disorder)\Disorder of stomach\Achalasia of esophagus\Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by 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.
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of esophagus\Oesophageal dysmotility\Achalasia of esophagus\Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by 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.
• \Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of stomach\Achalasia of esophagus\Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by 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.
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of stomach\Achalasia of esophagus\Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by 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.
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Stomach finding\Disorder of stomach\Achalasia of esophagus\Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by 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.
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of stomach\Achalasia of esophagus\Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by 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.
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of stomach\Achalasia of esophagus\Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by 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.
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Moyamoya disease\Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by 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.
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Moyamoya disease\Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by 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.
• \Cardiovascular finding\Disorder of cardiovascular system (disorder)\...
• \Cardiovascular system hereditary disorder\Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by 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.
• \Cerebrovascular disease\Moyamoya disease\Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by 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.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by 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.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by 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.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by 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.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by 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.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by 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.
• \Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by 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.
• \Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by 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.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by 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.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Moyamoya disease\Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by 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.
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder\Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by 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.
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Disorder of upper gastrointestinal tract (disorder)\Disorder of esophagus\Oesophageal dysmotility\Achalasia of esophagus\Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by 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.
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Disorder of upper gastrointestinal tract (disorder)\Disorder of stomach\Achalasia of esophagus\Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by 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.
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Disorder of upper gastrointestinal tract (disorder)\Disorder of esophagus\Oesophageal dysmotility\Achalasia of esophagus\Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by 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.
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Disorder of upper gastrointestinal tract (disorder)\Disorder of stomach\Achalasia of esophagus\Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by 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.
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of esophagus\Oesophageal dysmotility\Achalasia of esophagus\Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by 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.
• \Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Disorder of stomach\Achalasia of esophagus\Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by 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.
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by 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.
• \Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Cerebrovascular disease\Moyamoya disease\Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by 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.
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of stomach\Achalasia of esophagus\Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by 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.
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Moyamoya disease\Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by 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.

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
5401750019	Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401751015	Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterised by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3312727019	Moyamoya disease with early onset achalasia (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3312728012	Moyamoya disease with early onset achalasia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
927021000172117	maladie de Moyamoya avec achalasie précoce	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3441421001000112	Moyamoya-Krankheit mit früh-einsetzender Achalasie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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