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\Eye movement - finding\Nystagmus present\Nystagmus\Congenital nystagmus\Syndactyly, nystagmus syndrome due to 2q31.1 microduplication
• \Eye / vision finding\Eye movement - finding\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 chromosomal disease\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 chromosomal disease\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 anomaly\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 anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Syndactyly, nystagmus syndrome due to 2q31.1 microduplication
• \Disease\Congenital disease\Congenital chromosomal disease\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 chromosomal disease\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 anomaly\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 anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Syndactyly\Syndactyly, nystagmus syndrome due to 2q31.1 microduplication

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3759358013	Syndactyly, nystagmus syndrome due to trisomy 2q31.1	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3759359017	Syndactyly, nystagmus syndrome due to 2q31.1 microduplication	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3759361014	Syndactyly, nystagmus syndrome due to 2q31.1 microduplication (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3759360010	A rare genetic chromosomal anomaly syndrome resulting from partial duplication of the long arm of chromosome 2 with characteristics of congenital pendular nystagmus associated with bilateral cutaneous syndactyly between the third and fourth fingers.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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