FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.12  |  FHIR Version n/a  User: [n/a]

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


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 Some 1
Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome Is a Longitudinal deficiency of limb true Inferred relationship Some
Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome Occurrence Congenital true Inferred relationship Some 1
Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome Finding site Entire limb true Inferred relationship Some 1
Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome Is a Congenital anomaly of limb false Inferred relationship Some
Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome Is a Congenital deformity false Inferred relationship Some
Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start