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1263449003: Isolated encephalocele (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5168639012 Isolated encephalocele en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5168640014 Isolated encephalocele (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5168641013 A rare neural tube closure defect with characteristics of partial lack of bone fusion resulting in sac-like protrusions of the brain and the membranes that cover it through the openings in the skull. Protruding tissue may be located on any part of the head but most often affects the occipital area. Depending in the size and location, encephalocele are often associated with neurological problems including intellectual disability, seizures, vision impairment, ataxia and hydrocephalus. This disorder is not associated with a polymalformative syndrome. 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
Isolated encephalocele Is a Encephalocele true Inferred relationship Some
Isolated encephalocele Occurrence Congenital true Inferred relationship Some 1
Isolated encephalocele Finding site Bone structure of cranium true Inferred relationship Some 1
Isolated encephalocele Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 1
Isolated encephalocele Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Isolated encephalocele Occurrence Congenital true Inferred relationship Some 2
Isolated encephalocele Finding site Brain structure true Inferred relationship Some 2
Isolated encephalocele Associated morphology Herniated structure (morphologic abnormality) true Inferred relationship Some 2
Isolated encephalocele Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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