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719577000: 16p13.11 microdeletion syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
3316974015 16p13.11 microdeletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3316975019 Monosomy 16p13.11 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5402159011 16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402160018 16p13.11 microdeletion syndrome is a recently described syndrome characterised by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioural problems. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3316973014 16p13.11 microdeletion syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3316973014 16p13.11 microdeletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3316974015 16p13.11 microdeletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3316974015 16p13.11 microdeletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3316975019 Monosomy 16p13.11 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3316975019 Monosomy 16p13.11 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5402159011 16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402160018 16p13.11 microdeletion syndrome is a recently described syndrome characterised by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioural problems. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3423191001000118 Mikrodeletionssyndrom 16p13.11 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
884021000172111 del(16)(p13.11) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1014251000172113 syndrome de microdélétion 16p13.11 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
884021000172111 del(16)(p13.11) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1014251000172113 syndrome de microdélétion 16p13.11 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3423191001000118 Mikrodeletionssyndrom 16p13.11 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
16p13.11 microdeletion syndrome is a recently described syndrome characterised by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioural problems. Is a Anomaly of chromosome pair 16 false Inferred relationship Existential restriction modifier (core metadata concept)
16p13.11 microdeletion syndrome is a recently described syndrome characterised by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioural problems. Is a Deletion of part of autosome false Inferred relationship Existential restriction modifier (core metadata concept)
16p13.11 microdeletion syndrome is a recently described syndrome characterised by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioural problems. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
16p13.11 microdeletion syndrome is a recently described syndrome characterised by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioural problems. Finding site Chromosome pair 16 (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
16p13.11 microdeletion syndrome is a recently described syndrome characterised by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioural problems. Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
16p13.11 microdeletion syndrome is a recently described syndrome characterised by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioural problems. Finding site Chromosome pair 16 (cell structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
16p13.11 microdeletion syndrome is a recently described syndrome characterised by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioural problems. Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
16p13.11 microdeletion syndrome is a recently described syndrome characterised by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioural problems. Associated morphology Deletion of short arm false Inferred relationship Existential restriction modifier (core metadata concept) 3
16p13.11 microdeletion syndrome is a recently described syndrome characterised by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioural problems. Is a Deletion of part of short arm of chromosome 16 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
16p13.11 microdeletion syndrome is a recently described syndrome characterised by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioural problems. Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
16p13.11 microdeletion syndrome is a recently described syndrome characterised by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioural problems. Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
16p13.11 microdeletion syndrome is a recently described syndrome characterised by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioural problems. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
16p13.11 microdeletion syndrome is a recently described syndrome characterised by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioural problems. Finding site Short arm of chromosome true Inferred relationship Existential restriction modifier (core metadata concept) 1
16p13.11 microdeletion syndrome is a recently described syndrome characterised by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioural problems. Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
16p13.11 microdeletion syndrome is a recently described syndrome characterised by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioural problems. Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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