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782724001: Multisystemic smooth muscle dysfunction syndrome (disorder)


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3755498015 Multisystemic smooth muscle dysfunction syndrome en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


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

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

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