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782945001: Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3756887017 Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3756888010 Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome en Synonym Active Case insensitive SNOMED CT core
3756889019 Levic Stefanovic Nikolic syndrome en Synonym Active Case sensitive SNOMED CT core
3756890011 A rare genetic syndromic intellectual disability disorder with characteristics of congenital external nuclear ophthalmoplegia, lingua scrotalis, progressive chorioretinal sclerosis and intellectual disability. Bilateral ptosis, bilateral facial weakness, Parinaud syndrome, convergence paresis and myopia may be associated. There have been no further descriptions in the literature since 1975. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Is a Congenital anomaly of tongue false Inferred relationship Some
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Occurrence Congenital true Inferred relationship Some 2
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Is a Congenital fissure of tongue true Inferred relationship Some
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Occurrence Congenital true Inferred relationship Some 4
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Is a External ophthalmoplegia true Inferred relationship Some
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Is a Congenital nuclear ophthalmoplegia true Inferred relationship Some
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Is a Intellectual disability true Inferred relationship Some
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Finding site Eye structure false Inferred relationship Some 2
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Occurrence Congenital true Inferred relationship Some 3
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Occurrence Congenital true Inferred relationship Some 1
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Finding site Eyelid structure true Inferred relationship Some 4
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Finding site Structure of dorsum of anterior tongue true Inferred relationship Some 1
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Associated morphology Fissure true Inferred relationship Some 1
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Finding site Medial longitudinal fasciculus structure false Inferred relationship Some 3
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Is a Congenital anomaly of orbit true Inferred relationship Some
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Finding site Medial longitudinal fasciculus structure true Inferred relationship Some 2
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Finding site Structure of extraocular muscle true Inferred relationship Some 3
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Pathological process Pathological developmental process true Inferred relationship Some 4
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Is a Congenital anomaly of musculoskeletal system false Inferred relationship Some
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 4
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 3
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Is a Combined malformation of central nervous system and skeletal muscle true Inferred relationship Some
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Interprets Intellectual ability false Inferred relationship Some 5
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Has interpretation Impaired true Inferred relationship Some 5
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Interprets Adaptation behaviour false Inferred relationship Some 6
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Has interpretation Impaired true Inferred relationship Some 6
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Is a Paralysis of tongue true Inferred relationship Some
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Interprets Movement true Inferred relationship Some 8
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Interprets Adaptation behaviour true Inferred relationship Some 5
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Interprets Intellectual ability true Inferred relationship Some 6
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Interprets Movement observable true Inferred relationship Some 7
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Has interpretation Absent true Inferred relationship Some 7

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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