FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.2  |  FHIR Version n/a  User: [n/a]

715523005: Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder)


Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3302909015 Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3302910013 Mirror polydactyly, vertebral segmentation and limb defect syndrome en Synonym Active Case insensitive SNOMED CT core
3302911012 Rare syndrome with manifestations of mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus also reported. So far, it has been described in four unrelated infants, it is suggested that the syndrome is caused by defective expression of a developmental control gene. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Mirror polydactyly, vertebral segmentation and limb defect syndrome Occurrence Congenital true Inferred relationship Some 1
Mirror polydactyly, vertebral segmentation and limb defect syndrome Associated morphology Supernumerary structure true Inferred relationship Some 1
Mirror polydactyly, vertebral segmentation and limb defect syndrome Finding site Digit structure true Inferred relationship Some 1
Mirror polydactyly, vertebral segmentation and limb defect syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Mirror polydactyly, vertebral segmentation and limb defect syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Some 2
Mirror polydactyly, vertebral segmentation and limb defect syndrome Pathological process Pathological developmental process false Inferred relationship Some 2
Mirror polydactyly, vertebral segmentation and limb defect syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Mirror polydactyly, vertebral segmentation and limb defect syndrome Is a Congenital malformation syndromes involving limbs false Inferred relationship Some
Mirror polydactyly, vertebral segmentation and limb defect syndrome Is a Polydactyly true Inferred relationship Some
Mirror polydactyly, vertebral segmentation and limb defect syndrome Associated morphology Supernumerary structure false Inferred relationship Some 2
Mirror polydactyly, vertebral segmentation and limb defect syndrome Occurrence Congenital false Inferred relationship Some 2
Mirror polydactyly, vertebral segmentation and limb defect syndrome Finding site Digit structure false Inferred relationship Some 2
Mirror polydactyly, vertebral segmentation and limb defect syndrome Associated morphology Developmental abnormality false Inferred relationship Some 3
Mirror polydactyly, vertebral segmentation and limb defect syndrome Occurrence Congenital false Inferred relationship Some 3
Mirror polydactyly, vertebral segmentation and limb defect syndrome Finding site Musculoskeletal structure of limb false Inferred relationship Some 3
Mirror polydactyly, vertebral segmentation and limb defect syndrome Finding site Musculoskeletal structure of limb false Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start