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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 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) est un(e) (attribut) Congenital anomaly of tongue false Inferred relationship Some
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) est un(e) (attribut) Congenital plicated tongue true Inferred relationship Some
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) est un(e) (attribut) External ophthalmoplegia true Inferred relationship Some
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) est un(e) (attribut) Congenital nuclear ophthalmoplegia true Inferred relationship Some
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) est un(e) (attribut) Intellectual disability true Inferred relationship Some
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) localisation d'une constatation (attribut) Structure of eye proper (body 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) survenue (attribut) congénital true Inferred relationship Some 3
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) localisation d'une constatation (attribut) paupière (structure corporelle) true Inferred relationship Some 4
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) localisation d'une constatation (attribut) Structure of dorsum of anterior tongue true Inferred relationship Some 1
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) morphologie associée (attribut) Fissure (morphologic abnormality) true Inferred relationship Some 1
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) localisation d'une constatation (attribut) Medial longitudinal fasciculus 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) est un(e) (attribut) Congenital anomaly of orbit proper (disorder) true Inferred relationship Some
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) localisation d'une constatation (attribut) Medial longitudinal fasciculus structure true Inferred relationship Some 2
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) localisation d'une constatation (attribut) 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) est un(e) (attribut) Congenital anomaly of musculoskeletal system false Inferred relationship Some
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 4
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 3
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) est un(e) (attribut) Combined malformation of central nervous system and skeletal muscle (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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