783562005: Syndactyly, nystagmus syndrome due to 2q31.1 microduplication (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\...

\Disorder of digit\Congenital anomaly of digit\Syndactyly\Syndactyly, nystagmus syndrome due to 2q31.1 microduplication

\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Syndactyly, nystagmus syndrome due to 2q31.1 microduplication

\Finding of head and neck region\Head finding\...

\Finding of head region\Disorder of eye region\...

\Congenital nystagmus\Syndactyly, nystagmus syndrome due to 2q31.1 microduplication

\Pendular nystagmus\Syndactyly, nystagmus syndrome due to 2q31.1 microduplication

\Disorder of head\Disorder of eye region\...

\Congenital nystagmus\Syndactyly, nystagmus syndrome due to 2q31.1 microduplication

\Pendular nystagmus\Syndactyly, nystagmus syndrome due to 2q31.1 microduplication

\Eye / vision finding\Finding of eye movement\Nystagmus present\Nystagmus\Congenital nystagmus\Syndactyly, nystagmus syndrome due to 2q31.1 microduplication
\Eye / vision finding\Finding of eye movement\Nystagmus present\Nystagmus\Pendular nystagmus\Syndactyly, nystagmus syndrome due to 2q31.1 microduplication
\Eye / vision finding\Visual system disorder\Disorder of eye region\Congenital nystagmus\Syndactyly, nystagmus syndrome due to 2q31.1 microduplication
\Eye / vision finding\Visual system disorder\Disorder of eye region\Pendular nystagmus\Syndactyly, nystagmus syndrome due to 2q31.1 microduplication
\Eye / vision finding\Visual system disorder\Disorder of eye movements\Nystagmus\Congenital nystagmus\Syndactyly, nystagmus syndrome due to 2q31.1 microduplication
\Eye / vision finding\Visual system disorder\Disorder of eye movements\Nystagmus\Pendular nystagmus\Syndactyly, nystagmus syndrome due to 2q31.1 microduplication

\Disease\Genetic disease\Syndactyly, nystagmus syndrome due to 2q31.1 microduplication
\Disease\Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 2\2q partial trisomy syndrome\Syndactyly, nystagmus syndrome due to 2q31.1 microduplication
\Disease\Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 2\2q partial trisomy syndrome\Syndactyly, nystagmus syndrome due to 2q31.1 microduplication
\Disease\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 2\Partial trisomy of chromosome 2\2q partial trisomy syndrome\Syndactyly, nystagmus syndrome due to 2q31.1 microduplication
\Disease\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 2\2q partial trisomy syndrome\Syndactyly, nystagmus syndrome due to 2q31.1 microduplication
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Congenital nystagmus\Syndactyly, nystagmus syndrome due to 2q31.1 microduplication
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Pendular nystagmus\Syndactyly, nystagmus syndrome due to 2q31.1 microduplication
\Disease\Disorder of body system\Visual system disorder\Disorder of eye movements\Nystagmus\Congenital nystagmus\Syndactyly, nystagmus syndrome due to 2q31.1 microduplication
\Disease\Disorder of body system\Visual system disorder\Disorder of eye movements\Nystagmus\Pendular nystagmus\Syndactyly, nystagmus syndrome due to 2q31.1 microduplication
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Syndactyly\Syndactyly, nystagmus syndrome due to 2q31.1 microduplication
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Syndactyly, nystagmus syndrome due to 2q31.1 microduplication
\Disease\Disorder of head\Disorder of eye region\Congenital nystagmus\Syndactyly, nystagmus syndrome due to 2q31.1 microduplication
\Disease\Disorder of head\Disorder of eye region\Pendular nystagmus\Syndactyly, nystagmus syndrome due to 2q31.1 microduplication
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Syndactyly, nystagmus syndrome due to 2q31.1 microduplication
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Syndactyly, nystagmus syndrome due to 2q31.1 microduplication
\Disease\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 2\Partial trisomy of chromosome 2\2q partial trisomy syndrome\Syndactyly, nystagmus syndrome due to 2q31.1 microduplication
\Disease\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 2\2q partial trisomy syndrome\Syndactyly, nystagmus syndrome due to 2q31.1 microduplication
\Disease\Congenital disease\Congenital nystagmus\Syndactyly, nystagmus syndrome due to 2q31.1 microduplication
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Syndactyly, nystagmus syndrome due to 2q31.1 microduplication
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Syndactyly, nystagmus syndrome due to 2q31.1 microduplication

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3759358013 Syndactyly, nystagmus syndrome due to trisomy 2q31.1 en Synonym Active Only initial character case insensitive SNOMED CT core module

3759359017 Syndactyly, nystagmus syndrome due to 2q31.1 microduplication en Synonym Active Only initial character case insensitive SNOMED CT core module

3759361014 Syndactyly, nystagmus syndrome due to 2q31.1 microduplication (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Syndactyly, nystagmus syndrome due to 2q31.1 microduplication	Is a	Pendular nystagmus	true	Inferred relationship	Existential restriction modifier
Syndactyly, nystagmus syndrome due to 2q31.1 microduplication	Associated morphology	Congenital abnormal fusion	true	Inferred relationship	Existential restriction modifier	2
Syndactyly, nystagmus syndrome due to 2q31.1 microduplication	Is a	Congenital nystagmus	true	Inferred relationship	Existential restriction modifier
Syndactyly, nystagmus syndrome due to 2q31.1 microduplication	Is a	Genetic disease	true	Inferred relationship	Existential restriction modifier
Syndactyly, nystagmus syndrome due to 2q31.1 microduplication	Finding site	Digit structure	true	Inferred relationship	Existential restriction modifier	2
Syndactyly, nystagmus syndrome due to 2q31.1 microduplication	Is a	2q partial trisomy syndrome	true	Inferred relationship	Existential restriction modifier
Syndactyly, nystagmus syndrome due to 2q31.1 microduplication	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Syndactyly, nystagmus syndrome due to 2q31.1 microduplication	Is a	Syndactyly	true	Inferred relationship	Existential restriction modifier
Syndactyly, nystagmus syndrome due to 2q31.1 microduplication	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Syndactyly, nystagmus syndrome due to 2q31.1 microduplication	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Syndactyly, nystagmus syndrome due to 2q31.1 microduplication	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Syndactyly, nystagmus syndrome due to 2q31.1 microduplication	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Existential restriction modifier
Syndactyly, nystagmus syndrome due to 2q31.1 microduplication	Finding site	Eye region structure	true	Inferred relationship	Existential restriction modifier	3
Syndactyly, nystagmus syndrome due to 2q31.1 microduplication	Interprets	Ocular motility observable	true	Inferred relationship	Existential restriction modifier	4
Syndactyly, nystagmus syndrome due to 2q31.1 microduplication	Finding site	Chromosome pair 2	true	Inferred relationship	Existential restriction modifier	1
Syndactyly, nystagmus syndrome due to 2q31.1 microduplication	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3759358013	Syndactyly, nystagmus syndrome due to trisomy 2q31.1	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3759359017	Syndactyly, nystagmus syndrome due to 2q31.1 microduplication	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3759361014	Syndactyly, nystagmus syndrome due to 2q31.1 microduplication (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module