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719843001: Ulna fibula ray defect and brachydactyly syndrome (disorder)


Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3318132016 Ulna fibula ray defect and brachydactyly syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3318133014 Ulna fibula ray defect and brachydactyly syndrome en Synonym Active Case insensitive SNOMED CT core
3318134015 Morava Mehes syndrome en Synonym Active Case sensitive SNOMED CT core
3318135019 A very rare malformation syndrome with characteristics of hypoplasia of ulna associated with hypoplastic to absent fourth and/or fifth digits, hypoplasia of fibula, short stature and facial dysmorphism. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ulna fibula ray defect and brachydactyly syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Ulna fibula ray defect and brachydactyly syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 3
Ulna fibula ray defect and brachydactyly syndrome Associated morphology Abnormally short growth true Inferred relationship Some 1
Ulna fibula ray defect and brachydactyly syndrome Occurrence Congenital true Inferred relationship Some 2
Ulna fibula ray defect and brachydactyly syndrome Finding site Bone structure of fibula true Inferred relationship Some 3
Ulna fibula ray defect and brachydactyly syndrome Finding site Entire digit true Inferred relationship Some 1
Ulna fibula ray defect and brachydactyly syndrome Finding site Face structure true Inferred relationship Some 2
Ulna fibula ray defect and brachydactyly syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Ulna fibula ray defect and brachydactyly syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
Ulna fibula ray defect and brachydactyly syndrome Occurrence Congenital true Inferred relationship Some 1
Ulna fibula ray defect and brachydactyly syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Ulna fibula ray defect and brachydactyly syndrome Pathological process Pathological developmental process true Inferred relationship Some 4
Ulna fibula ray defect and brachydactyly syndrome Occurrence Congenital true Inferred relationship Some 3
Ulna fibula ray defect and brachydactyly syndrome Finding site Bone structure of ulna false Inferred relationship Some 3
Ulna fibula ray defect and brachydactyly syndrome Associated morphology Dysplasia true Inferred relationship Some 4
Ulna fibula ray defect and brachydactyly syndrome Associated morphology Dysplasia true Inferred relationship Some 3
Ulna fibula ray defect and brachydactyly syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Ulna fibula ray defect and brachydactyly syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Ulna fibula ray defect and brachydactyly syndrome Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Ulna fibula ray defect and brachydactyly syndrome Is a Brachydactyly true Inferred relationship Some
Ulna fibula ray defect and brachydactyly syndrome Is a Dysostosis true Inferred relationship Some
Ulna fibula ray defect and brachydactyly syndrome Is a Congenital anomaly of ulna true Inferred relationship Some
Ulna fibula ray defect and brachydactyly syndrome Is a Congenital anomaly of fibula true Inferred relationship Some
Ulna fibula ray defect and brachydactyly syndrome Is a Inherited disorder of connective tissue false Inferred relationship Some
Ulna fibula ray defect and brachydactyly syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Ulna fibula ray defect and brachydactyly syndrome Occurrence Congenital true Inferred relationship Some 4
Ulna fibula ray defect and brachydactyly syndrome Occurrence Congenital false Inferred relationship Some 5
Ulna fibula ray defect and brachydactyly syndrome Occurrence Congenital false Inferred relationship Some 6
Ulna fibula ray defect and brachydactyly syndrome Occurrence Congenital false Inferred relationship Some 7
Ulna fibula ray defect and brachydactyly syndrome Associated morphology Developmental abnormality false Inferred relationship Some 5
Ulna fibula ray defect and brachydactyly syndrome Finding site Face structure false Inferred relationship Some 5
Ulna fibula ray defect and brachydactyly syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 7
Ulna fibula ray defect and brachydactyly syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 4
Ulna fibula ray defect and brachydactyly syndrome Finding site Bone structure of fibula false Inferred relationship Some 4
Ulna fibula ray defect and brachydactyly syndrome Associated morphology Abnormally short growth false Inferred relationship Some 6
Ulna fibula ray defect and brachydactyly syndrome Finding site Entire digit false Inferred relationship Some 6
Ulna fibula ray defect and brachydactyly syndrome Finding site Bone structure of ulna false Inferred relationship Some 7
Ulna fibula ray defect and brachydactyly syndrome Finding site Bone structure of ulna true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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