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783700001: Syndactyly, polydactyly, ear lobe syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3759768017 Syndactyly, polydactyly, ear lobe syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3759769013 Syndactyly, polydactyly, ear lobe syndrome en Synonym Active Case insensitive SNOMED CT core
3759767010 A rare genetic congenital limb malformation syndrome with characteristics of complete cutaneous syndactyly between toes 1-2, ulnar polydactyly (ranging from nubbins to an almost complete additional finger) and earlobe malformations. Additionally, abnormalities along the medial border of the foot are observed on X-ray imaging. There have been no further descriptions in the literature since 1976. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Syndactyly, polydactyly, ear lobe syndrome Is a Polysyndactyly true Inferred relationship Some
Syndactyly, polydactyly, ear lobe syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Syndactyly, polydactyly, ear lobe syndrome Is a Polydactyly of fingers true Inferred relationship Some
Syndactyly, polydactyly, ear lobe syndrome Finding site Toe structure true Inferred relationship Some 2
Syndactyly, polydactyly, ear lobe syndrome Is a Congenital abnormality of external ear false Inferred relationship Some
Syndactyly, polydactyly, ear lobe syndrome Is a Disorder of pinna false Inferred relationship Some
Syndactyly, polydactyly, ear lobe syndrome Is a Genetic disease true Inferred relationship Some
Syndactyly, polydactyly, ear lobe syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Syndactyly, polydactyly, ear lobe syndrome Pathological process Pathological developmental process true Inferred relationship Some 4
Syndactyly, polydactyly, ear lobe syndrome Occurrence Congenital true Inferred relationship Some 3
Syndactyly, polydactyly, ear lobe syndrome Associated morphology Congenital abnormal fusion true Inferred relationship Some 2
Syndactyly, polydactyly, ear lobe syndrome Occurrence Congenital true Inferred relationship Some 4
Syndactyly, polydactyly, ear lobe syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Syndactyly, polydactyly, ear lobe syndrome Is a Dysostosis true Inferred relationship Some
Syndactyly, polydactyly, ear lobe syndrome Occurrence Congenital true Inferred relationship Some 2
Syndactyly, polydactyly, ear lobe syndrome Is a Syndactyly of toes true Inferred relationship Some
Syndactyly, polydactyly, ear lobe syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Syndactyly, polydactyly, ear lobe syndrome Occurrence Congenital true Inferred relationship Some 1
Syndactyly, polydactyly, ear lobe syndrome Associated morphology Supernumerary structure true Inferred relationship Some 4
Syndactyly, polydactyly, ear lobe syndrome Associated morphology Dysplasia true Inferred relationship Some 1
Syndactyly, polydactyly, ear lobe syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 3
Syndactyly, polydactyly, ear lobe syndrome Finding site Ear lobule structure true Inferred relationship Some 3
Syndactyly, polydactyly, ear lobe syndrome Finding site Finger structure true Inferred relationship Some 4
Syndactyly, polydactyly, ear lobe syndrome Finding site Bone structure true Inferred relationship Some 1
Syndactyly, polydactyly, ear lobe syndrome Is a Congenital anomaly of lobe of ear true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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