FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

230530003: Congenital nuclear ophthalmoplegia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
345436010 Congenital nuclear ophthalmoplegia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
618350017 Congenital nuclear ophthalmoplegia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital nuclear ophthalmoplegia Is a Congenital disorders of eye and eyelid movements false Inferred relationship Some
Congenital nuclear ophthalmoplegia Is a Ophthalmoplegia true Inferred relationship Some
Congenital nuclear ophthalmoplegia Is a Disorder of brain stem (disorder) false Inferred relationship Some
Congenital nuclear ophthalmoplegia Associated morphology Congenital anomaly false Inferred relationship Some 1
Congenital nuclear ophthalmoplegia Occurrence Congenital false Inferred relationship Some
Congenital nuclear ophthalmoplegia Finding site Brainstem structure false Inferred relationship Some
Congenital nuclear ophthalmoplegia Finding site Eye structure false Inferred relationship Some 1
Congenital nuclear ophthalmoplegia Finding site Orbital region structure false Inferred relationship Some 1
Congenital nuclear ophthalmoplegia Finding site Eyelid structure false Inferred relationship Some
Congenital nuclear ophthalmoplegia Has interpretation Abnormal false Inferred relationship Some
Congenital nuclear ophthalmoplegia Associated morphology Congenital anomaly false Inferred relationship Some 1
Congenital nuclear ophthalmoplegia Interprets Ocular motility observable false Inferred relationship Some
Congenital nuclear ophthalmoplegia Associated morphology Congenital anomaly false Inferred relationship Some 1
Congenital nuclear ophthalmoplegia Finding site Eye structure false Inferred relationship Some 1
Congenital nuclear ophthalmoplegia Occurrence Congenital true Inferred relationship Some 2
Congenital nuclear ophthalmoplegia Associated morphology Developmental anomaly false Inferred relationship Some 2
Congenital nuclear ophthalmoplegia Finding site Eye structure false Inferred relationship Some 2
Congenital nuclear ophthalmoplegia Occurrence Congenital false Inferred relationship Some 3
Congenital nuclear ophthalmoplegia Occurrence Congenital true Inferred relationship Some 1
Congenital nuclear ophthalmoplegia Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital nuclear ophthalmoplegia Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Congenital nuclear ophthalmoplegia Finding site Medial longitudinal fasciculus structure false Inferred relationship Some 2
Congenital nuclear ophthalmoplegia Is a Disorder of midbrain (disorder) true Inferred relationship Some
Congenital nuclear ophthalmoplegia Finding site Eyelid structure false Inferred relationship Some 3
Congenital nuclear ophthalmoplegia Finding site Medial longitudinal fasciculus structure true Inferred relationship Some 1
Congenital nuclear ophthalmoplegia Finding site Eyelid structure true Inferred relationship Some 2
Congenital nuclear ophthalmoplegia Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Congenital nuclear ophthalmoplegia Is a Congenital structural abnormality of eyelid true Inferred relationship Some
Congenital nuclear ophthalmoplegia Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
Congenital nuclear ophthalmoplegia Is a Dysgenesis of the brainstem true Inferred relationship Some
Congenital nuclear ophthalmoplegia Interprets Movement false Inferred relationship Some 4
Congenital nuclear ophthalmoplegia Interprets Movement observable true Inferred relationship Some 3
Congenital nuclear ophthalmoplegia Has interpretation Absent true Inferred relationship Some 3
Inbound Relationships Type Active Source Characteristic Refinability Group
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. Is a True Congenital nuclear ophthalmoplegia Inferred relationship Some

This concept is not in any reference sets

Back to Start