FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.2  |  FHIR Version n/a  User: [n/a]

719577000: 16p13.11 microdeletion syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3316973014 16p13.11 microdeletion syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3316974015 16p13.11 microdeletion syndrome en Synonym Active Case insensitive SNOMED CT core
3316975019 Monosomy 16p13.11 en Synonym Active Case insensitive SNOMED CT core
3316976018 A recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems. Facial features include down-slanting palpebral fissures, short nose, low-set ears, wide mouth and thin upper lip. Variable congenital anomalies can also be observed. This syndrome is caused by an interstitial deletion encompassing 16p13.11. The underlying mechanism is non-allelic homologous recombination. Microdeletions appear de novo or are inherited from mildly affected or completely normal parents in an autosomal dominant manner, suggesting that the microdeletion has incomplete penetrance and variable expressivity. en Definition Active Case sensitive SNOMED CT core
3316977010 A recently described syndrome characterised by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioural problems. Facial features include down-slanting palpebral fissures, short nose, low-set ears, wide mouth and thin upper lip. Variable congenital anomalies can also be observed. This syndrome is caused by an interstitial deletion encompassing 16p13.11. The underlying mechanism is non-allelic homologous recombination. Microdeletions appear de novo or are inherited from mildly affected or completely normal parents in an autosomal dominant manner, suggesting that the microdeletion has incomplete penetrance and variable expressivity. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
16p13.11 microdeletion syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
16p13.11 microdeletion syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
16p13.11 microdeletion syndrome Occurrence Congenital true Inferred relationship Some 1
16p13.11 microdeletion syndrome Finding site Short arm of chromosome true Inferred relationship Some 1
16p13.11 microdeletion syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
16p13.11 microdeletion syndrome Associated morphology Partial monosomy true Inferred relationship Some 1
16p13.11 microdeletion syndrome Is a Anomaly of chromosome pair 16 false Inferred relationship Some
16p13.11 microdeletion syndrome Is a Deletion of part of autosome false Inferred relationship Some
16p13.11 microdeletion syndrome Occurrence Congenital true Inferred relationship Some 2
16p13.11 microdeletion syndrome Finding site Chromosome pair 16 true Inferred relationship Some 2
16p13.11 microdeletion syndrome Occurrence Congenital false Inferred relationship Some 3
16p13.11 microdeletion syndrome Finding site Chromosome pair 16 false Inferred relationship Some 3
16p13.11 microdeletion syndrome Associated morphology Partial monosomy true Inferred relationship Some 2
16p13.11 microdeletion syndrome Associated morphology Deletion of short arm false Inferred relationship Some 3
16p13.11 microdeletion syndrome Is a Deletion of part of short arm of chromosome 16 true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start