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768555009: 5q31.3 microdeletion syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
3686034012 Severe neonatal hypotonia, seizures, encephalopathy syndrome due to 5q31.3 microdeletion en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3686035013 5q31.3 microdeletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3686036014 5q31.3 microdeletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
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 Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
5q31.3 microdeletion syndrome (disorder) Is a Neurodevelopmental disorder true Inferred relationship Some
5q31.3 microdeletion syndrome (disorder) Is a Deletion of part of long arm of chromosome 5 (disorder) true Inferred relationship Some
5q31.3 microdeletion syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
5q31.3 microdeletion syndrome (disorder) Is a Seizure disorder true Inferred relationship Some
5q31.3 microdeletion syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
5q31.3 microdeletion syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
5q31.3 microdeletion syndrome (disorder) Finding site Chromosome pair 5 true Inferred relationship Some 1
5q31.3 microdeletion syndrome (disorder) Finding site Brain structure false Inferred relationship Some 2
5q31.3 microdeletion syndrome (disorder) Finding site Chromosome pair 5 false Inferred relationship Some 3
5q31.3 microdeletion syndrome (disorder) Associated morphology Deletion of long arm false Inferred relationship Some 1
5q31.3 microdeletion syndrome (disorder) Associated morphology Partial monosomy (morphologic abnormality) false Inferred relationship Some 3
5q31.3 microdeletion syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 4
5q31.3 microdeletion syndrome (disorder) Finding site Long arm of chromosome true Inferred relationship Some 2
5q31.3 microdeletion syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
5q31.3 microdeletion syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
5q31.3 microdeletion syndrome (disorder) Finding site Brain structure true Inferred relationship Some 3
5q31.3 microdeletion syndrome (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
5q31.3 microdeletion syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
5q31.3 microdeletion syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
5q31.3 microdeletion syndrome (disorder) Associated morphology Partial monosomy (morphologic abnormality) 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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