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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
2131171000172113 syndrome multisystémique de dysfonction des muscles lisses fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
2131161000172116 syndroom van multisystemische disfunctie van gladde spieren nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Multisystemic smooth muscle dysfunction syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Multisystemic smooth muscle dysfunction syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Multisystemic smooth muscle dysfunction syndrome (disorder) Is a Disorder of smooth muscle true Inferred relationship Some
Multisystemic smooth muscle dysfunction syndrome (disorder) Is a Patent ductus arteriosus true Inferred relationship Some
Multisystemic smooth muscle dysfunction syndrome (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Multisystemic smooth muscle dysfunction syndrome (disorder) Is a Fixed dilatation of pupil true Inferred relationship Some
Multisystemic smooth muscle dysfunction syndrome (disorder) Is a Pupillary disorder true Inferred relationship Some
Multisystemic smooth muscle dysfunction syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Multisystemic smooth muscle dysfunction syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Multisystemic smooth muscle dysfunction syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Multisystemic smooth muscle dysfunction syndrome (disorder) Associated morphology Persistent embryonic structure true Inferred relationship Some 1
Multisystemic smooth muscle dysfunction syndrome (disorder) Finding site Structure of ductus arteriosus true Inferred relationship Some 1
Multisystemic smooth muscle dysfunction syndrome (disorder) Finding site Pupil structure (body structure) true Inferred relationship Some 2
Multisystemic smooth muscle dysfunction syndrome (disorder) Finding site 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) Is a Developmental hereditary disorder true Inferred relationship Some
Multisystemic smooth muscle dysfunction syndrome (disorder) Is a Anomaly of eye (disorder) true Inferred relationship Some
Multisystemic smooth muscle dysfunction syndrome (disorder) Finding site Pupil structure (body structure) true Inferred relationship Some 4
Multisystemic smooth muscle dysfunction syndrome (disorder) Associated morphology Dilatation true Inferred relationship Some 4
Multisystemic smooth muscle dysfunction syndrome (disorder) Interprets Size of pupil true Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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