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733521003: Distal 16p11.2 microdeletion syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3499601015 Distal 16p11.2 microdeletion syndrome en Synonym Active Case insensitive SNOMED CT core
3499602010 Distal 16p11.2 microdeletion syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3499603017 Distal monosomy 16p11.2 en Synonym Active Case insensitive SNOMED CT core
3500027019 A rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16. The disease has a highly variable phenotype with typical characteristics of developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Distal 16p11.2 microdeletion syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Distal 16p11.2 microdeletion syndrome Is a Developmental delay true Inferred relationship Some
Distal 16p11.2 microdeletion syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Distal 16p11.2 microdeletion syndrome Occurrence Congenital true Inferred relationship Some 1
Distal 16p11.2 microdeletion syndrome Finding site Short arm of chromosome true Inferred relationship Some 1
Distal 16p11.2 microdeletion syndrome Is a Congenital anomaly true Inferred relationship Some
Distal 16p11.2 microdeletion syndrome Associated morphology Partial monosomy true Inferred relationship Some 1
Distal 16p11.2 microdeletion syndrome Is a Deletion of part of short arm of chromosome 16 true Inferred relationship Some
Distal 16p11.2 microdeletion syndrome Occurrence Congenital true Inferred relationship Some 2
Distal 16p11.2 microdeletion syndrome Finding site Chromosome pair 16 true Inferred relationship Some 2
Distal 16p11.2 microdeletion syndrome Occurrence Congenital false Inferred relationship Some 3
Distal 16p11.2 microdeletion syndrome Finding site Chromosome pair 16 false Inferred relationship Some 3
Distal 16p11.2 microdeletion syndrome Associated morphology Partial monosomy true Inferred relationship Some 2
Distal 16p11.2 microdeletion syndrome Associated morphology Deletion of short arm false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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