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732250002: Craniosynostosis fibular aplasia syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
3464760016 Craniosynostosis fibular aplasia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3464761017 Craniosynostosis fibular aplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3464762012 Lowry syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3464763019 An extremely rare genetic disease reported in only two brothers to date with the combination of craniosynostosis (involving both coronal sutures), congenital absence of the fibula, cryptorchidism, and bilateral simian creases. Intelligence is normal. There have been no further reports in the literature since 1972. 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
Craniosynostosis fibular aplasia syndrome (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Craniosynostosis fibular aplasia syndrome (disorder) Is a Congenital anomaly of skull true Inferred relationship Some
Craniosynostosis fibular aplasia syndrome (disorder) Is a Craniosynostosis syndrome true Inferred relationship Some
Craniosynostosis fibular aplasia syndrome (disorder) Is a Congenital absence of fibula false Inferred relationship Some
Craniosynostosis fibular aplasia syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Craniosynostosis fibular aplasia syndrome (disorder) Is a Congenital anomaly of bone and joint true Inferred relationship Some
Craniosynostosis fibular aplasia syndrome (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Craniosynostosis fibular aplasia syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Craniosynostosis fibular aplasia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Craniosynostosis fibular aplasia syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Craniosynostosis fibular aplasia syndrome (disorder) Associated morphology Congenital premature fusion false Inferred relationship Some 2
Craniosynostosis fibular aplasia syndrome (disorder) Finding site Structure of coronal suture of skull false Inferred relationship Some 2
Craniosynostosis fibular aplasia syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 3
Craniosynostosis fibular aplasia syndrome (disorder) Finding site Bone structure of fibula false Inferred relationship Some 3
Craniosynostosis fibular aplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Craniosynostosis fibular aplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Craniosynostosis fibular aplasia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Craniosynostosis fibular aplasia syndrome (disorder) Finding site Structure of coronal suture of skull true Inferred relationship Some 1
Craniosynostosis fibular aplasia syndrome (disorder) Associated morphology Congenital premature fusion true Inferred relationship Some 1
Craniosynostosis fibular aplasia syndrome (disorder) Finding site Entire fibula (body structure) true Inferred relationship Some 2
Craniosynostosis fibular aplasia syndrome (disorder) Associated morphology Agenesis (morphologic abnormality) true Inferred relationship Some 2
Craniosynostosis fibular aplasia syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Craniosynostosis fibular aplasia syndrome (disorder) Is a Agenesis of fibula true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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