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442300000: Rhombencephalosynapsis (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2009. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2819619014 Rhombencephalosynapsis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2819620015 Rhombencephalosynapsis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
906241000172114 rhombencéphalosynapsis fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3453351001000111 Rhombenzephalosynapsis de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


1 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Rhombencephalosynapsis Is a Aplasia of the vermis true Inferred relationship Some
Rhombencephalosynapsis Occurrence Congenital false Inferred relationship Some
Rhombencephalosynapsis Associated morphology anomalie congénitale du développement false Inferred relationship Some 1
Rhombencephalosynapsis Finding site Cerebellar vermis structure false Inferred relationship Some 1
Rhombencephalosynapsis Associated morphology anomalie congénitale du développement false Inferred relationship Some 1
Rhombencephalosynapsis Finding site Cerebellar vermis structure true Inferred relationship Some 1
Rhombencephalosynapsis Occurrence Congenital false Inferred relationship Some 2
Rhombencephalosynapsis Associated morphology Aplasia false Inferred relationship Some 2
Rhombencephalosynapsis Finding site Cerebellar vermis structure false Inferred relationship Some 2
Rhombencephalosynapsis Associated morphology Aplasia true Inferred relationship Some 1
Rhombencephalosynapsis Occurrence Congenital true Inferred relationship Some 1
Rhombencephalosynapsis Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
A rare neurocutaneous syndrome characterized by the association of cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia) abnormalities. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behavior and bipolar disorder have also been reported. Is a True Rhombencephalosynapsis Inferred relationship Some

This concept is not in any reference sets

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