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


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
3756888010 Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3756889019 Levic Stefanovic Nikolic syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5408397010 A rare, genetic, syndromic intellectual disability disorder characterized by congenital, external, nuclear ophthalmoplegia, lingua scrotalis, progressive chorioretinal sclerosis and intellectual disability. Bilateral ptosis, bilateral facial weakness, Parinaud's syndrome, convergence paresis and myopia may be associated. There have been no further descriptions in the literature since 1975. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5408398017 A rare, genetic, syndromic intellectual disability disorder characterised by congenital, external, nuclear ophthalmoplegia, lingua scrotalis, progressive chorioretinal sclerosis and intellectual disability. Bilateral ptosis, bilateral facial weakness, Parinaud's syndrome, convergence paresis and myopia may be associated. There have been no further descriptions in the literature since 1975. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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