768555009: 5q31.3 microdeletion syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\5q31.3 microdeletion syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Seizure disorder\5q31.3 microdeletion syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Seizure disorder\5q31.3 microdeletion syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Seizure\Seizure disorder\5q31.3 microdeletion syndrome
• \Finding of brain\Encephalopathy\Seizure disorder\5q31.3 microdeletion syndrome
• \Disorder of head\Encephalopathy\Seizure disorder\5q31.3 microdeletion syndrome
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\5q31.3 microdeletion syndrome
• \Disease\Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 5\Deletion of part of long arm of chromosome 5\5q31.3 microdeletion syndrome
• \Disease\Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 5\Deletion of part of chromosome 5\Deletion of part of long arm of chromosome 5\5q31.3 microdeletion syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\5q31.3 microdeletion syndrome
• \Disease\Disorder of head\Encephalopathy\Seizure disorder\5q31.3 microdeletion syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\5q31.3 microdeletion syndrome
• \Disease\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 5\Deletion of part of long arm of chromosome 5\5q31.3 microdeletion syndrome
• \Disease\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 5\Deletion of part of chromosome 5\Deletion of part of long arm of chromosome 5\5q31.3 microdeletion syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\5q31.3 microdeletion syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\5q31.3 microdeletion syndrome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3686034012	Severe neonatal hypotonia, seizures, encephalopathy syndrome due to 5q31.3 microdeletion	en	Synonym	Active	Case insensitive	SNOMED CT core
3686035013	5q31.3 microdeletion syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3686036014	5q31.3 microdeletion syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3686038010	Syndrome with characteristics of infancy onset hypotonia, feeding difficulties, breathing problems, dysphagia, severely delayed development of speech and motor skills, distinctive facial features, recurrent seizures and seizure-like episodes (muscle jerking, twitching, and stiffening). Brain abnormalities may also be present several of which are caused by reduced production of myelin or delayed maturation of myelin. Caused by a microdeletion occurring on the long (q) arm of chromosome 5 at a position designated q31.3. The deleted region typically contains at least three genes. The loss of one of these genes, PURA, is thought to lead to most of the characteristic features of the condition. The condition is not inherited.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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