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783156008: Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3757863014 Hecht Scott syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3757865019 FATCO syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3757868017 Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3757869013 Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3757871013 A rare genetic congenital limb malformation syndrome with characteristics of unilateral or bilateral fibular aplasia/hypoplasia, tibial campomelia, and lower limb oligo-syndactyly involving the lateral rays. Upper limb oligo-syndactyly and cleft lip/palate may also be associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3757863014 Hecht Scott syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3757865019 FATCO syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3757868017 Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3757869013 Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3757871013 A rare genetic congenital limb malformation syndrome with characteristics of unilateral or bilateral fibular aplasia/hypoplasia, tibial campomelia, and lower limb oligo-syndactyly involving the lateral rays. Upper limb oligo-syndactyly and cleft lip/palate may also be associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3429081001000119 FATCO-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6168471000241113 syndrome d'aplasie fibulaire, campomélie tibiale et oligosyndactylie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6168481000241110 syndrome FATCO (fibular aplasia, tibial campomelia, oligosyndactyly) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6168491000241112 syndrome de Hecht-Scott fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6168471000241113 syndrome d'aplasie fibulaire, campomélie tibiale et oligosyndactylie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6168481000241110 syndrome FATCO (fibular aplasia, tibial campomelia, oligosyndactyly) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6168491000241112 syndrome de Hecht-Scott fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3429081001000119 FATCO-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
Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome Associated morphology Abnormal shortening true Inferred relationship Existential restriction modifier (core metadata concept) 1
Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome Is a Longitudinal deficiency of limb true Inferred relationship Existential restriction modifier (core metadata concept)
Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome Finding site Entire limb true Inferred relationship Existential restriction modifier (core metadata concept) 1
Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome Is a Congenital anomaly of limb false Inferred relationship Existential restriction modifier (core metadata concept)
Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome Is a Congenital deformity (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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