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1172635005: Split-foot malformation, mesoaxial polydactyly syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4634905014 SFMMP (split-foot malformation, mesoaxial polydactyly) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4634906010 Split-foot malformation, mesoaxial polydactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4634907018 Split-foot malformation, mesoaxial polydactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4634908011 Split-foot malformation, mesoaxial polydactyly, nail abnormalities, sensorineural hearing loss syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5399372016 A rare genetic syndrome with limb malformations as a major feature characterized by unilateral or bilateral split-foot malformation, nail abnormalities of the hand, and bilateral sensorineural hearing impairment. Mesoaxial polydactyly of the foot has also been described. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399373014 A rare genetic syndrome with limb malformations as a major feature characterised by unilateral or bilateral split-foot malformation, nail abnormalities of the hand, and bilateral sensorineural hearing impairment. Mesoaxial polydactyly of the foot has also been described. 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
Split-foot malformation, mesoaxial polydactyly syndrome Is a Sensorineural hearing loss of bilateral ears true Inferred relationship Some
Split-foot malformation, mesoaxial polydactyly syndrome Is a Split foot true Inferred relationship Some
Split-foot malformation, mesoaxial polydactyly syndrome Is a Hearing loss associated with syndrome true Inferred relationship Some
Split-foot malformation, mesoaxial polydactyly syndrome Is a Finding of digit of hand true Inferred relationship Some
Split-foot malformation, mesoaxial polydactyly syndrome Is a Congenital anomaly of hand (disorder) true Inferred relationship Some
Split-foot malformation, mesoaxial polydactyly syndrome Is a Congenital anomaly of nail true Inferred relationship Some
Split-foot malformation, mesoaxial polydactyly syndrome Is a Auditory system hereditary disorder true Inferred relationship Some
Split-foot malformation, mesoaxial polydactyly syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Split-foot malformation, mesoaxial polydactyly syndrome Is a Hereditary disorder of the integument true Inferred relationship Some
Split-foot malformation, mesoaxial polydactyly syndrome Is a Genetic disorder of nail (disorder) true Inferred relationship Some
Split-foot malformation, mesoaxial polydactyly syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Split-foot malformation, mesoaxial polydactyly syndrome Is a Congenital sensorineural hearing loss (disorder) true Inferred relationship Some
Split-foot malformation, mesoaxial polydactyly syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Split-foot malformation, mesoaxial polydactyly syndrome Interprets Hearing true Inferred relationship Some 5
Split-foot malformation, mesoaxial polydactyly syndrome Has interpretation Impaired true Inferred relationship Some 5
Split-foot malformation, mesoaxial polydactyly syndrome Occurrence Congenital true Inferred relationship Some 1
Split-foot malformation, mesoaxial polydactyly syndrome Finding site Foot structure true Inferred relationship Some 1
Split-foot malformation, mesoaxial polydactyly syndrome Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 1
Split-foot malformation, mesoaxial polydactyly syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Split-foot malformation, mesoaxial polydactyly syndrome Occurrence Congenital true Inferred relationship Some 2
Split-foot malformation, mesoaxial polydactyly syndrome Finding site Entire lesser toe true Inferred relationship Some 2
Split-foot malformation, mesoaxial polydactyly syndrome Associated morphology Absence (morphologic abnormality) true Inferred relationship Some 2
Split-foot malformation, mesoaxial polydactyly syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Split-foot malformation, mesoaxial polydactyly syndrome Occurrence Congenital true Inferred relationship Some 3
Split-foot malformation, mesoaxial polydactyly syndrome Finding site Structure of nail unit of digit of hand (body structure) true Inferred relationship Some 3
Split-foot malformation, mesoaxial polydactyly syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Split-foot malformation, mesoaxial polydactyly syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Split-foot malformation, mesoaxial polydactyly syndrome Occurrence Congenital true Inferred relationship Some 4
Split-foot malformation, mesoaxial polydactyly syndrome Finding site Structure of auditory system (body structure) true Inferred relationship Some 4
Split-foot malformation, mesoaxial polydactyly syndrome Is a Disorder of skin of upper limb (disorder) true Inferred relationship Some
Split-foot malformation, mesoaxial polydactyly syndrome Finding site Left ear structure true Inferred relationship Some 6
Split-foot malformation, mesoaxial polydactyly syndrome Finding site Right ear structure true Inferred relationship Some 7

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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