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719600006: 1p21.3 microdeletion syndrome (disorder)


Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3317088013 1p21.3 microdeletion syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3317090014 1p21.3 microdeletion syndrome en Synonym Active Case insensitive SNOMED CT core
3317106013 Monosomy 1p21.3 en Synonym Active Case insensitive SNOMED CT core
3317107016 An extremely rare chromosomal anomaly with characteristics of severe speech and language delay, intellectual deficiency, autism spectrum disorder. Less than 10 cases have been reported to date. The syndrome is caused by a hemizygous interstitial microdeletion on the short arm of chromosome 1, occurring mostly de novo, that implicates DPYD (dihydropyrimidine dehydrogenase) and MIR137 genes associated with miRNA pathways. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
1p21.3 microdeletion syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
1p21.3 microdeletion syndrome Finding site Short arm of chromosome true Inferred relationship Some 1
1p21.3 microdeletion syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
1p21.3 microdeletion syndrome Occurrence Congenital true Inferred relationship Some 1
1p21.3 microdeletion syndrome Is a Congenital anomaly true Inferred relationship Some
1p21.3 microdeletion syndrome Associated morphology Partial monosomy true Inferred relationship Some 1
1p21.3 microdeletion syndrome Interprets Intellectual ability true Inferred relationship Some 3
1p21.3 microdeletion syndrome Has interpretation Impaired true Inferred relationship Some 3
1p21.3 microdeletion syndrome Interprets Adaptation behaviour true Inferred relationship Some 4
1p21.3 microdeletion syndrome Has interpretation Impaired true Inferred relationship Some 4
1p21.3 microdeletion syndrome Is a 1p partial monosomy true Inferred relationship Some
1p21.3 microdeletion syndrome Is a Intellectual disability false Inferred relationship Some
1p21.3 microdeletion syndrome Is a Autistic disorder true Inferred relationship Some
1p21.3 microdeletion syndrome Associated morphology Partial monosomy true Inferred relationship Some 2
1p21.3 microdeletion syndrome Occurrence Congenital true Inferred relationship Some 2
1p21.3 microdeletion syndrome Finding site Chromosome pair 1 true Inferred relationship Some 2
1p21.3 microdeletion syndrome Associated morphology Deletion of short arm false Inferred relationship Some 3
1p21.3 microdeletion syndrome Occurrence Congenital false Inferred relationship Some 3
1p21.3 microdeletion syndrome Finding site Chromosome pair 1 false Inferred relationship Some 3
1p21.3 microdeletion syndrome Is a Intellectual disability true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Mental health disorder reference set

Problem/Diagnosis reference set

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