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1231181001: Non-syndromic metopic craniosynostosis (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Jun 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5071791013 Isolated metopic craniosynostosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5071792018 Non-syndromic metopic craniosynostosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5071793011 Non-syndromic metopic suture synostosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5071794017 Non-syndromic metopic craniosynostosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5071795016 Isolated trigonocephaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5400187013 Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400188015 Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterised by the premature fusion of the metopic suture. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5071791013 Isolated metopic craniosynostosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5071792018 Non-syndromic metopic craniosynostosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5071793011 Non-syndromic metopic suture synostosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5071794017 Non-syndromic metopic craniosynostosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5071795016 Isolated trigonocephaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5400187013 Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterized by the premature fusion of the metopic suture. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400188015 Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterised by the premature fusion of the metopic suture. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3415131001000111 Kraniosynostose, metopische, nicht-syndromale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3415131001000111 Kraniosynostose, metopische, nicht-syndromale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Non-syndromic metopic craniosynostosis (disorder) Is a Trigonocephaly true Inferred relationship Existential restriction modifier (core metadata concept)
Non-syndromic metopic craniosynostosis (disorder) Is a Genetic disease true Inferred relationship Existential restriction modifier (core metadata concept)
Non-syndromic metopic craniosynostosis (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Non-syndromic metopic craniosynostosis (disorder) Finding site Frontal bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Non-syndromic metopic craniosynostosis (disorder) Associated morphology Abnormal shape (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Non-syndromic metopic craniosynostosis (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Non-syndromic metopic craniosynostosis (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Non-syndromic metopic craniosynostosis (disorder) Finding site Structure of frontal suture of skull true Inferred relationship Existential restriction modifier (core metadata concept) 2
Non-syndromic metopic craniosynostosis (disorder) Associated morphology Congenital premature fusion false Inferred relationship Existential restriction modifier (core metadata concept) 2
Non-syndromic metopic craniosynostosis (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Non-syndromic metopic craniosynostosis (disorder) Associated morphology Premature fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 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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