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719843001: Ulna fibula ray defect and brachydactyly 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
3318132016 Ulna fibula ray defect and brachydactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3318133014 Ulna fibula ray defect and brachydactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3318134015 Morava Mehes syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402261013 A rare congenital malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402262018 A rare congenital malformation syndrome characterised by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318132016 Ulna fibula ray defect and brachydactyly syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3318132016 Ulna fibula ray defect and brachydactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3318133014 Ulna fibula ray defect and brachydactyly syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3318133014 Ulna fibula ray defect and brachydactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3318134015 Morava Mehes syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5402261013 A rare congenital malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402262018 A rare congenital malformation syndrome characterised by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3413881001000117 Ulna-Fibula-Strahldefekt-Brachydaktylie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3413881001000117 Ulna-Fibula-Strahldefekt-Brachydaktylie-Syndrom 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
Ulna fibula ray defect and brachydactyly syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Ulna fibula ray defect and brachydactyly syndrome (disorder) Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Ulna fibula ray defect and brachydactyly syndrome (disorder) Is a Brachydactyly true Inferred relationship Existential restriction modifier (core metadata concept)
Ulna fibula ray defect and brachydactyly syndrome (disorder) Is a Dysostosis true Inferred relationship Existential restriction modifier (core metadata concept)
Ulna fibula ray defect and brachydactyly syndrome (disorder) Is a Congenital anomaly of ulna (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Ulna fibula ray defect and brachydactyly syndrome (disorder) Is a Congenital anomaly of fibula true Inferred relationship Existential restriction modifier (core metadata concept)
Ulna fibula ray defect and brachydactyly syndrome (disorder) Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Ulna fibula ray defect and brachydactyly syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Ulna fibula ray defect and brachydactyly syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Ulna fibula ray defect and brachydactyly syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Ulna fibula ray defect and brachydactyly syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Ulna fibula ray defect and brachydactyly syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 7
Ulna fibula ray defect and brachydactyly syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 5
Ulna fibula ray defect and brachydactyly syndrome (disorder) Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Ulna fibula ray defect and brachydactyly syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 7
Ulna fibula ray defect and brachydactyly syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 4
Ulna fibula ray defect and brachydactyly syndrome (disorder) Finding site Bone structure of fibula false Inferred relationship Existential restriction modifier (core metadata concept) 4
Ulna fibula ray defect and brachydactyly syndrome (disorder) Associated morphology Abnormally short growth false Inferred relationship Existential restriction modifier (core metadata concept) 6
Ulna fibula ray defect and brachydactyly syndrome (disorder) Finding site Entire digit false Inferred relationship Existential restriction modifier (core metadata concept) 6
Ulna fibula ray defect and brachydactyly syndrome (disorder) Finding site Bone structure of ulna false Inferred relationship Existential restriction modifier (core metadata concept) 7
Ulna fibula ray defect and brachydactyly syndrome (disorder) Finding site Bone structure of ulna true Inferred relationship Existential restriction modifier (core metadata concept) 4
Ulna fibula ray defect and brachydactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ulna fibula ray defect and brachydactyly syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 3
Ulna fibula ray defect and brachydactyly syndrome (disorder) Associated morphology Abnormally short growth true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ulna fibula ray defect and brachydactyly syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ulna fibula ray defect and brachydactyly syndrome (disorder) Finding site Bone structure of fibula true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ulna fibula ray defect and brachydactyly syndrome (disorder) Finding site Entire digit true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ulna fibula ray defect and brachydactyly syndrome (disorder) Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ulna fibula ray defect and brachydactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ulna fibula ray defect and brachydactyly syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ulna fibula ray defect and brachydactyly syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ulna fibula ray defect and brachydactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ulna fibula ray defect and brachydactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Ulna fibula ray defect and brachydactyly syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ulna fibula ray defect and brachydactyly syndrome (disorder) Finding site Bone structure of ulna false Inferred relationship Existential restriction modifier (core metadata concept) 3
Ulna fibula ray defect and brachydactyly syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 4
Ulna fibula ray defect and brachydactyly syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ulna fibula ray defect and brachydactyly syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Ulna fibula ray defect and brachydactyly syndrome (disorder) Is a Congenital dysplasia of limb (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Ulna fibula ray defect and brachydactyly syndrome (disorder) Is a Congenital dysplasia of lower limb (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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