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719159004: Syndactyly type 5 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3315203014 Syndactyly type 5 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315204015 Syndactyly type 5 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401976012 A rare non-syndromic syndactyly characterized by soft tissue syndactyly of the 3rd and 4th fingers and the 2nd and 3rd toes associated with metacarpal and metatarsal fusion of the 4th and 5th digits. Shortening of fused metacarpals, ulnar deviation of fingers, interdigital cleft, camptodactyly, short distal phalanges, and absent distal interphalangeal creases have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401977015 A rare non-syndromic syndactyly characterised by soft tissue syndactyly of the 3rd and 4th fingers and the 2nd and 3rd toes associated with metacarpal and metatarsal fusion of the 4th and 5th digits. Shortening of fused metacarpals, ulnar deviation of fingers, interdigital cleft, camptodactyly, short distal phalanges, and absent distal interphalangeal creases have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3315203014 Syndactyly type 5 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3315203014 Syndactyly type 5 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315204015 Syndactyly type 5 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3315204015 Syndactyly type 5 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3315206018 A very rare congenital limb malformation with characteristics of postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits. So far, less than ten reports have been described in the literature. Soft tissue syndactyly (involving the third and fourth fingers and the second and third toes) may be present. The locus associated with SD5 maps to 2q31-q32. Mutations in the HOXD13 gene may be causative. The condition is inherited as an autosomal dominant trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401976012 A rare non-syndromic syndactyly characterized by soft tissue syndactyly of the 3rd and 4th fingers and the 2nd and 3rd toes associated with metacarpal and metatarsal fusion of the 4th and 5th digits. Shortening of fused metacarpals, ulnar deviation of fingers, interdigital cleft, camptodactyly, short distal phalanges, and absent distal interphalangeal creases have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401977015 A rare non-syndromic syndactyly characterised by soft tissue syndactyly of the 3rd and 4th fingers and the 2nd and 3rd toes associated with metacarpal and metatarsal fusion of the 4th and 5th digits. Shortening of fused metacarpals, ulnar deviation of fingers, interdigital cleft, camptodactyly, short distal phalanges, and absent distal interphalangeal creases have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3383451001000118 Syndaktylie Typ 5 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
876191000172113 syndactylie postaxiale avec synostose métacarpienne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1002971000172116 syndactylie type 5 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
876191000172113 syndactylie postaxiale avec synostose métacarpienne fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1002971000172116 syndactylie type 5 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3383451001000118 Syndaktylie Typ 5 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Syndactyly type 5 Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Syndactyly type 5 Is a Syndactyly (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Syndactyly type 5 Associated morphology Congenital abnormal fusion false Inferred relationship Existential restriction modifier (core metadata concept) 1
Syndactyly type 5 Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Syndactyly type 5 Finding site Digit structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Syndactyly type 5 Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Syndactyly type 5 Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Syndactyly type 5 Associated morphology Abnormally fused structure (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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