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724170007: Mesoaxial synostotic syndactyly with phalangeal reduction syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3431473013 Mesoaxial synostotic syndactyly with phalangeal reduction syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3431474019 Mesoaxial synostotic syndactyly with phalangeal reduction syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3431475018 Syndactyly Malik Percin type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3431476017 Syndactyly type 9 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3431477014 A novel and distinct form of non-syndromic syndactyly including complete syndactyly of the third and fourth fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the second and third toes and fifth finger clinodactyly. It has been described in two families. The locus for this complex limb malformation was mapped to chromosome 17p13.3. The condition is transmitted as an autosomal recessive trait. 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
Mesoaxial synostotic syndactyly with phalangeal reduction syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Mesoaxial synostotic syndactyly with phalangeal reduction syndrome (disorder) Is a Syndactyly (disorder) true Inferred relationship Some
Mesoaxial synostotic syndactyly with phalangeal reduction syndrome (disorder) Associated morphology Congenital abnormal fusion false Inferred relationship Some 1
Mesoaxial synostotic syndactyly with phalangeal reduction syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Mesoaxial synostotic syndactyly with phalangeal reduction syndrome (disorder) Finding site Digit structure true Inferred relationship Some 1
Mesoaxial synostotic syndactyly with phalangeal reduction syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Mesoaxial synostotic syndactyly with phalangeal reduction syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Mesoaxial synostotic syndactyly with phalangeal reduction syndrome (disorder) Associated morphology Abnormally fused structure (morphologic abnormality) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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