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720600004: syndrome de camptodactylie-dysplasie osseuse (trouble)


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
3321496019 Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3321497011 Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3321498018 Goodman camptodactyly en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
755711000241119 syndrome de camptodactylie-dysplasie osseuse (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
934451000172112 camptodactylie de Goodman fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
989891000172114 syndrome de camptodactylie-dysplasie osseuse fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3321499014 An extremely rare chondrodysplastic malformation syndrome with the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly and scoliosis. A mild facial dysmorphism including a broad nose and flaring nostrils and a mild intellectual disability were also noted. The syndrome has been described once in 3 siblings and is suspected to follow autosomal recessive transmission. There have been no further descriptions in the literature since 1972. 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
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) localisation d'une constatation (attribut) face true Inferred relationship Some 1
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) localisation d'une constatation (attribut) Musculoskeletal structure of digit of hand true Inferred relationship Some 3
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) localisation d'une constatation (attribut) structure osseuse true Inferred relationship Some 4
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) morphologie associée (attribut) Flexion deformity false Inferred relationship Some 3
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) localisation d'une constatation (attribut) doigt de la main, sauf le pouce true Inferred relationship Some 2
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 4
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 4
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) est un(e) (attribut) Congenital anomaly of finger true Inferred relationship Some
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) morphologie associée (attribut) Fixed flexion deformity (morphologic abnormality) true Inferred relationship Some 3
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) est un(e) (attribut) déformation en flexion de la main true Inferred relationship Some
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) est un(e) (attribut) constatation à propos de la structure musculosquelettique d'un doigt de la main true Inferred relationship Some
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) est un(e) (attribut) Congenital deformity of hand (disorder) true Inferred relationship Some
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) localisation d'une constatation (attribut) face false Inferred relationship Some 7
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) est un(e) (attribut) Camptodactyly true Inferred relationship Some
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) est un(e) (attribut) Congenital abnormal shape of digit false Inferred relationship Some
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) est un(e) (attribut) Chondrodysplasia true Inferred relationship Some
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) est un(e) (attribut) anomalie morphologique congénitale false Inferred relationship Some
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 7
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 8
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 8
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) morphologie associée (attribut) Congenital flexion deformity false Inferred relationship Some 9
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 9
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) localisation d'une constatation (attribut) Musculoskeletal structure of digit of hand false Inferred relationship Some 9
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) localisation d'une constatation (attribut) doigt de la main, sauf le pouce false Inferred relationship Some 8
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 6
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) localisation d'une constatation (attribut) structure osseuse false Inferred relationship Some 6
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 7

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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