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718551002: maladie de Moyamoya avec achalasie précoce (trouble)


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
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
752311000241110 maladie de Moyamoya avec achalasie précoce (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
927021000172117 maladie de Moyamoya avec achalasie précoce fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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 Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Moyamoya disease with early onset achalasia (disorder) est un(e) (attribut) Achalasia of oesophagus true Inferred relationship Some
Moyamoya disease with early onset achalasia (disorder) est un(e) (attribut) Moyamoya disease true Inferred relationship Some
Moyamoya disease with early onset achalasia (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Moyamoya disease with early onset achalasia (disorder) est un(e) (attribut) Cardiovascular system hereditary disorder true Inferred relationship Some
Moyamoya disease with early onset achalasia (disorder) est un(e) (attribut) Digestive system hereditary disorder true Inferred relationship Some
Moyamoya disease with early onset achalasia (disorder) est un(e) (attribut) Hereditary disorder of nervous system true Inferred relationship Some
Moyamoya disease with early onset achalasia (disorder) survenue (attribut) Infancy (qualifier value) true Inferred relationship Some 2
Moyamoya disease with early onset achalasia (disorder) localisation d'une constatation (attribut) structure de l'encéphale true Inferred relationship Some 5
Moyamoya disease with early onset achalasia (disorder) localisation d'une constatation (attribut) Cardio-oesophageal junction structure true Inferred relationship Some 3
Moyamoya disease with early onset achalasia (disorder) localisation d'une constatation (attribut) structure du système vasculaire cérébral true Inferred relationship Some 4
Moyamoya disease with early onset achalasia (disorder) localisation d'une constatation (attribut) œsophage (structure corporelle) false Inferred relationship Some 1
Moyamoya disease with early onset achalasia (disorder) a pour interprétation (attribut) anormal true Inferred relationship Some 1
Moyamoya disease with early onset achalasia (disorder) interprète (attribut) Motility (observable entity) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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