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1231181001: Non-syndromic metopic craniosynostosis (disorder)


Status: current, Primitive. Date: 30-Jun 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5071791013 Isolated metopic craniosynostosis en Synonym Active Case insensitive SNOMED CT core
5071792018 Non-syndromic metopic craniosynostosis (disorder) en Fully specified name Active Case insensitive SNOMED CT core
5071793011 Non-syndromic metopic suture synostosis en Synonym Active Case insensitive SNOMED CT core
5071794017 Non-syndromic metopic craniosynostosis en Synonym Active Case insensitive SNOMED CT core
5071795016 Isolated trigonocephaly en Synonym Active Case insensitive SNOMED CT core
5071796015 A non-syndromic form of craniosynostosis with characteristics of the premature fusion of the metopic suture. The premature closure of the metopic suture results in deformation of the anterior portion of the calvarium and a triangular-shaped forehead. The underlying genetic cause of isolated trigonocephaly remains to be delineated. Most cases are sporadic but familial forms with apparently autosomal dominant transmission have been reported. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Non-syndromic metopic craniosynostosis Is a Trigonocephaly true Inferred relationship Some
Non-syndromic metopic craniosynostosis Is a Genetic disease true Inferred relationship Some
Non-syndromic metopic craniosynostosis Occurrence Congenital true Inferred relationship Some 1
Non-syndromic metopic craniosynostosis Finding site Frontal bone structure true Inferred relationship Some 1
Non-syndromic metopic craniosynostosis Associated morphology Abnormal shape true Inferred relationship Some 1
Non-syndromic metopic craniosynostosis Pathological process Pathological developmental process true Inferred relationship Some 1
Non-syndromic metopic craniosynostosis Occurrence Congenital true Inferred relationship Some 2
Non-syndromic metopic craniosynostosis Finding site Structure of frontal suture of skull true Inferred relationship Some 2
Non-syndromic metopic craniosynostosis Associated morphology Congenital premature fusion true Inferred relationship Some 2
Non-syndromic metopic craniosynostosis Pathological process Pathological developmental process true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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