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720952001: Aplasia of fibula and ectrodactyly 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
3322619019 Aplasia of fibula and ectrodactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322620013 Fibular aplasia and ectrodactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322621012 Familial ectrodactyly with fibular aplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322622017 Aplasia of fibula and ectrodactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5402524017 A rare, genetic, congenital dysostosis disorder characterized by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additional variable features include shortening of the femur, as well as tibial, hip, knee, and/or ankle defects. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402525016 A rare, genetic, congenital dysostosis disorder characterised by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additional variable features include shortening of the femur, as well as tibial, hip, knee, and/or ankle defects. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3322619019 Aplasia of fibula and ectrodactyly syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322619019 Aplasia of fibula and ectrodactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322620013 Fibular aplasia and ectrodactyly syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322620013 Fibular aplasia and ectrodactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322621012 Familial ectrodactyly with fibular aplasia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322621012 Familial ectrodactyly with fibular aplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322622017 Aplasia of fibula and ectrodactyly syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3322622017 Aplasia of fibula and ectrodactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3322623010 This syndrome has characteristics of fibular aplasia and ectrodactyly. Less than 50 familial and sporadic cases have been reported in the literature. Shortening of the femur, a curved tibia, severe foot anomalies and pathologies of the hip, knee and ankle may also be present. The disorder is probably inherited as an autosomal dominant trait, with reduced penetrance, especially in females. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402524017 A rare, genetic, congenital dysostosis disorder characterized by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additional variable features include shortening of the femur, as well as tibial, hip, knee, and/or ankle defects. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402525016 A rare, genetic, congenital dysostosis disorder characterised by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additional variable features include shortening of the femur, as well as tibial, hip, knee, and/or ankle defects. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3442931001000113 Fibula-Aplasie-Ektrodaktylie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5786431000241115 syndrome d'aplasie de la fibula et ectrodactylie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5786441000241113 syndrome d'aplasie fibulaire et ectrodactylie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5786451000241111 syndrome d'aplasie du péroné et ectrodactylie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5786431000241115 syndrome d'aplasie de la fibula et ectrodactylie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5786441000241113 syndrome d'aplasie fibulaire et ectrodactylie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5786451000241111 syndrome d'aplasie du péroné et ectrodactylie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3442931001000113 Fibula-Aplasie-Ektrodaktylie-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
Aplasia of fibula and ectrodactyly syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia of fibula and ectrodactyly syndrome (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia of fibula and ectrodactyly syndrome (disorder) Is a Ectrodactyly (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia of fibula and ectrodactyly syndrome (disorder) Is a Dysostosis true Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia of fibula and ectrodactyly syndrome (disorder) Is a Congenital anomaly of fibula false Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia of fibula and ectrodactyly syndrome (disorder) Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia of fibula and ectrodactyly syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia of fibula and ectrodactyly syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 3
Aplasia of fibula and ectrodactyly syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Aplasia of fibula and ectrodactyly syndrome (disorder) Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Aplasia of fibula and ectrodactyly syndrome (disorder) Associated morphology Aplasia false Inferred relationship Existential restriction modifier (core metadata concept) 4
Aplasia of fibula and ectrodactyly syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Aplasia of fibula and ectrodactyly syndrome (disorder) Finding site Bone structure of fibula false Inferred relationship Existential restriction modifier (core metadata concept) 4
Aplasia of fibula and ectrodactyly syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Aplasia of fibula and ectrodactyly syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Aplasia of fibula and ectrodactyly syndrome (disorder) Finding site Entire digit false Inferred relationship Existential restriction modifier (core metadata concept) 5
Aplasia of fibula and ectrodactyly syndrome (disorder) Associated morphology Aplasia true Inferred relationship Existential restriction modifier (core metadata concept) 2
Aplasia of fibula and ectrodactyly syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Aplasia of fibula and ectrodactyly syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Aplasia of fibula and ectrodactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Aplasia of fibula and ectrodactyly syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Aplasia of fibula and ectrodactyly syndrome (disorder) Finding site Bone structure of fibula true Inferred relationship Existential restriction modifier (core metadata concept) 2
Aplasia of fibula and ectrodactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Aplasia of fibula and ectrodactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Aplasia of fibula and ectrodactyly syndrome (disorder) Finding site Entire digit true Inferred relationship Existential restriction modifier (core metadata concept) 1
Aplasia of fibula and ectrodactyly syndrome (disorder) Is a Adactyly false Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia of fibula and ectrodactyly syndrome (disorder) Is a Absence of fibula false Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia of fibula and ectrodactyly syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 3
Aplasia of fibula and ectrodactyly syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia of fibula and ectrodactyly syndrome (disorder) Associated morphology Absence (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Aplasia of fibula and ectrodactyly syndrome (disorder) Is a Congenital absence of fibula false Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia of fibula and ectrodactyly syndrome (disorder) 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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