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733095006: Skeletal dysplasia brachydactyly 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
3498741012 Mononen Karnes Senac syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3498742017 Skeletal dysplasia brachydactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498743010 Skeletal dysplasia brachydactyly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3499974010 Syndrome with characteristics of skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested. 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
Skeletal dysplasia brachydactyly syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Skeletal dysplasia brachydactyly syndrome morphologie associée (attribut) Abnormally short growth true Inferred relationship Some 1
Skeletal dysplasia brachydactyly syndrome survenue (attribut) congénital true Inferred relationship Some 1
Skeletal dysplasia brachydactyly syndrome localisation d'une constatation (attribut) Entire digit true Inferred relationship Some 1
Skeletal dysplasia brachydactyly syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Skeletal dysplasia brachydactyly syndrome morphologie associée (attribut) dysplasie true Inferred relationship Some 2
Skeletal dysplasia brachydactyly syndrome est un(e) (attribut) Congenital anomaly of skeletal bone true Inferred relationship Some
Skeletal dysplasia brachydactyly syndrome est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Skeletal dysplasia brachydactyly syndrome est un(e) (attribut) X-linked dominant hereditary disease (disorder) true Inferred relationship Some
Skeletal dysplasia brachydactyly syndrome est un(e) (attribut) brachydactylie true Inferred relationship Some
Skeletal dysplasia brachydactyly syndrome est un(e) (attribut) Skeletal dysplasia true Inferred relationship Some
Skeletal dysplasia brachydactyly syndrome est un(e) (attribut) X-linked hereditary disease false Inferred relationship Some
Skeletal dysplasia brachydactyly syndrome est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Skeletal dysplasia brachydactyly syndrome est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Skeletal dysplasia brachydactyly syndrome morphologie associée (attribut) Abnormally short growth false Inferred relationship Some 2
Skeletal dysplasia brachydactyly syndrome survenue (attribut) congénital true Inferred relationship Some 2
Skeletal dysplasia brachydactyly syndrome localisation d'une constatation (attribut) Entire digit false Inferred relationship Some 2
Skeletal dysplasia brachydactyly syndrome morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 3
Skeletal dysplasia brachydactyly syndrome survenue (attribut) congénital false Inferred relationship Some 3
Skeletal dysplasia brachydactyly syndrome localisation d'une constatation (attribut) structure osseuse false Inferred relationship Some 3
Skeletal dysplasia brachydactyly syndrome morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 2
Skeletal dysplasia brachydactyly syndrome localisation d'une constatation (attribut) structure osseuse true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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