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719069008: Shprintzen Goldberg craniosynostosis syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
3314857019 Shprintzen Goldberg craniosynostosis syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3314858012 Shprintzen Goldberg craniosynostosis syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3314859016 Marfanoid craniosynostosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3314860014 Shprintzen-Goldberg syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3314861013 An extremely rare disorder with less than 50 cases reported to date worldwide. The disorder usually has characteristics of marfanoid habitus, craniofacial abnormalities (craniosynostosis, characteristic dysmorphic facial features), skeletal and cardiovascular abnormalities and learning disabilities. Its occurrence is sporadic and mutations in the fibrillin-1 gene have been described in some of these patients. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Shprintzen Goldberg craniosynostosis syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Shprintzen Goldberg craniosynostosis syndrome (disorder) Is a Craniosynostosis syndrome true Inferred relationship Some
Shprintzen Goldberg craniosynostosis syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature (disorder) true Inferred relationship Some
Shprintzen Goldberg craniosynostosis syndrome (disorder) Is a mental retardering false Inferred relationship Some
Shprintzen Goldberg craniosynostosis syndrome (disorder) Is a Marfanoid physique (finding) true Inferred relationship Some
Shprintzen Goldberg craniosynostosis syndrome (disorder) Is a Connective tissue hereditary disorder (disorder) true Inferred relationship Some
Shprintzen Goldberg craniosynostosis syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Shprintzen Goldberg craniosynostosis syndrome (disorder) Finding site Bone structure of cranium false Inferred relationship Some
Shprintzen Goldberg craniosynostosis syndrome (disorder) Interprets Physique type true Inferred relationship Some 4
Shprintzen Goldberg craniosynostosis syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Shprintzen Goldberg craniosynostosis syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Shprintzen Goldberg craniosynostosis syndrome (disorder) Associated morphology Congenital premature fusion false Inferred relationship Some 5
Shprintzen Goldberg craniosynostosis syndrome (disorder) Finding site Joint structure of suture of skull false Inferred relationship Some 5
Shprintzen Goldberg craniosynostosis syndrome (disorder) Associated morphology dysgenese false Inferred relationship Some 6
Shprintzen Goldberg craniosynostosis syndrome (disorder) Finding site Face structure false Inferred relationship Some 6
Shprintzen Goldberg craniosynostosis syndrome (disorder) Is a Intellectual disability (disorder) true Inferred relationship Some
Shprintzen Goldberg craniosynostosis syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Shprintzen Goldberg craniosynostosis syndrome (disorder) Finding site Joint structure of suture of skull true Inferred relationship Some 1
Shprintzen Goldberg craniosynostosis syndrome (disorder) Associated morphology Congenital premature fusion true Inferred relationship Some 1
Shprintzen Goldberg craniosynostosis syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Shprintzen Goldberg craniosynostosis syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Shprintzen Goldberg craniosynostosis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Shprintzen Goldberg craniosynostosis syndrome (disorder) Finding site Face structure true Inferred relationship Some 2
Shprintzen Goldberg craniosynostosis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Shprintzen Goldberg craniosynostosis syndrome (disorder) Finding site Connective tissue structure true Inferred relationship Some 3
Shprintzen Goldberg craniosynostosis syndrome (disorder) Is a Musculoskeletal and connective tissue disorder (disorder) true Inferred relationship Some
Shprintzen Goldberg craniosynostosis syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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