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715474004: Aplasia of fibula co-occurrent with complex brachydactyly (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
3302752014 Aplasia of fibula co-occurrent with complex brachydactyly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3302753016 Aplasia of fibula co-occurrent with complex brachydactyly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3302754010 Fibular aplasia and complex brachydactyly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3302755011 Du Pan syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3302760010 Severe reduction or absence of the fibula and complex brachydactyly. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene. 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
Aplasia of fibula co-occurrent with complex brachydactyly (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Aplasia of fibula co-occurrent with complex brachydactyly (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Aplasia of fibula co-occurrent with complex brachydactyly (disorder) Is a Congenital anomaly of fibula false Inferred relationship Some
Aplasia of fibula co-occurrent with complex brachydactyly (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Aplasia of fibula co-occurrent with complex brachydactyly (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Aplasia of fibula co-occurrent with complex brachydactyly (disorder) Associated morphology Aplasia true Inferred relationship Some 1
Aplasia of fibula co-occurrent with complex brachydactyly (disorder) Occurrence Congenital true Inferred relationship Some 1
Aplasia of fibula co-occurrent with complex brachydactyly (disorder) Finding site Bone structure of fibula true Inferred relationship Some 1
Aplasia of fibula co-occurrent with complex brachydactyly (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Aplasia of fibula co-occurrent with complex brachydactyly (disorder) Is a Absence of fibula false Inferred relationship Some
Aplasia of fibula co-occurrent with complex brachydactyly (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Aplasia of fibula co-occurrent with complex brachydactyly (disorder) Is a Congenital absence 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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