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


Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3757863014 Hecht Scott syndrome en Synonym Active Case sensitive SNOMED CT core
3757865019 FATCO syndrome en Synonym Active Case sensitive SNOMED CT core
3757868017 Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome en Synonym Active Case insensitive SNOMED CT core
3757869013 Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome (disorder) en Fully specified name Active Case insensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
FATCO syndrome Associated morphology Abnormal shortening true Inferred relationship Some 1
FATCO syndrome Is a Longitudinal deficiency of limb true Inferred relationship Some
FATCO syndrome Occurrence Congenital true Inferred relationship Some 1
FATCO syndrome Finding site Entire limb true Inferred relationship Some 1
FATCO syndrome Is a Congenital anomaly of limb false Inferred relationship Some
FATCO syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
FATCO syndrome Is a Congenital deformity false Inferred relationship Some
FATCO syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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