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782724001: Multisystemic smooth muscle dysfunction syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3755497013 Multisystemic smooth muscle dysfunction syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3755498015 Multisystemic smooth muscle dysfunction syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3755499011 A rare genetic vascular disease with characteristics of congenital dysfunction of smooth muscle throughout the body, manifesting with cerebrovascular disease, aortic anomalies, intestinal hypoperistalsis, hypotonic bladder and pulmonary hypertension. Congenital mid-dilated pupils non-reactive to light associated with a large, persistent patent ductus arteriosus are characteristic hallmarks of the disease. There is evidence the disease is caused by heterozygous mutation in the ACTA2 gene on chromosome 10q23. 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
Multisystemic smooth muscle dysfunction syndrome (disorder) est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Multisystemic smooth muscle dysfunction syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Multisystemic smooth muscle dysfunction syndrome (disorder) est un(e) (attribut) Disorder of smooth muscle true Inferred relationship Some
Multisystemic smooth muscle dysfunction syndrome (disorder) est un(e) (attribut) Patent ductus arteriosus true Inferred relationship Some
Multisystemic smooth muscle dysfunction syndrome (disorder) est un(e) (attribut) Cardiovascular system hereditary disorder true Inferred relationship Some
Multisystemic smooth muscle dysfunction syndrome (disorder) est un(e) (attribut) Fixed dilatation of pupil true Inferred relationship Some
Multisystemic smooth muscle dysfunction syndrome (disorder) est un(e) (attribut) Pupillary disorder true Inferred relationship Some
Multisystemic smooth muscle dysfunction syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Multisystemic smooth muscle dysfunction syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Multisystemic smooth muscle dysfunction syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Multisystemic smooth muscle dysfunction syndrome (disorder) morphologie associée (attribut) Persistent embryonic structure true Inferred relationship Some 1
Multisystemic smooth muscle dysfunction syndrome (disorder) localisation d'une constatation (attribut) Structure of ductus arteriosus true Inferred relationship Some 1
Multisystemic smooth muscle dysfunction syndrome (disorder) localisation d'une constatation (attribut) Pupil structure (body structure) true Inferred relationship Some 2
Multisystemic smooth muscle dysfunction syndrome (disorder) localisation d'une constatation (attribut) Smooth muscle (organ) structure true Inferred relationship Some 3
Multisystemic smooth muscle dysfunction syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Multisystemic smooth muscle dysfunction syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Multisystemic smooth muscle dysfunction syndrome (disorder) est un(e) (attribut) Anomaly of eye (disorder) true Inferred relationship Some
Multisystemic smooth muscle dysfunction syndrome (disorder) localisation d'une constatation (attribut) Pupil structure (body structure) true Inferred relationship Some 4
Multisystemic smooth muscle dysfunction syndrome (disorder) morphologie associée (attribut) dilatation true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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