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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
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
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
3302754010 Fibular aplasia and complex brachydactyly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302755011 Du Pan syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400919015 A rare syndrome characterized by severe reduction or absence of the fibula and complex brachydactyly. Less than 30 cases have been described in the literature so far. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene (GDF5). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400920014 A rare syndrome characterised by severe reduction or absence of the fibula and complex brachydactyly. Less than 30 cases have been described in the literature so far. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene (GDF5). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3302752014 Aplasia of fibula co-occurrent with complex brachydactyly (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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
3302753016 Aplasia of fibula co-occurrent with complex brachydactyly en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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
3302754010 Fibular aplasia and complex brachydactyly en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3302754010 Fibular aplasia and complex brachydactyly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302755011 Du Pan syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
5400919015 A rare syndrome characterized by severe reduction or absence of the fibula and complex brachydactyly. Less than 30 cases have been described in the literature so far. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene (GDF5). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400920014 A rare syndrome characterised by severe reduction or absence of the fibula and complex brachydactyly. Less than 30 cases have been described in the literature so far. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene (GDF5). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3410591001000111 Fibula-Aplasie - komplexe Brachydaktylie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5475401000241117 aplasie fibulaire concomitante d'une brachydactylie complexe fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5475401000241117 aplasie fibulaire concomitante d'une brachydactylie complexe fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3410591001000111 Fibula-Aplasie - komplexe Brachydaktylie 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
Fibular aplasia and complex brachydactyly Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Fibular aplasia and complex brachydactyly Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Fibular aplasia and complex brachydactyly Is a Congenital anomaly of fibula false Inferred relationship Existential restriction modifier (core metadata concept)
Fibular aplasia and complex brachydactyly Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Fibular aplasia and complex brachydactyly Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Fibular aplasia and complex brachydactyly Associated morphology Aplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Fibular aplasia and complex brachydactyly Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Fibular aplasia and complex brachydactyly Finding site Bone structure of fibula true Inferred relationship Existential restriction modifier (core metadata concept) 1
Fibular aplasia and complex brachydactyly Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Fibular aplasia and complex brachydactyly Is a Absence of fibula false Inferred relationship Existential restriction modifier (core metadata concept)
Fibular aplasia and complex brachydactyly Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Fibular aplasia and complex brachydactyly Is a Congenital absence of fibula false Inferred relationship Existential restriction modifier (core metadata concept)
Fibular aplasia and complex brachydactyly Is a Aplasia of fibula (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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