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720600004: Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder)


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3321497011 Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome en Synonym Active Case insensitive SNOMED CT core
3321498018 Goodman camptodactyly en Synonym Active Case sensitive SNOMED CT core
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 Case sensitive 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 Occurrence Congenital true Inferred relationship Some 3
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Pathological process Pathological developmental process true Inferred relationship Some 4
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Occurrence Congenital true Inferred relationship Some 1
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Occurrence Congenital true Inferred relationship Some 4
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Occurrence Congenital true Inferred relationship Some 2
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Finding site Face structure true Inferred relationship Some 1
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Finding site Musculoskeletal structure of digit of hand true Inferred relationship Some 3
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Finding site Bone structure true Inferred relationship Some 4
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Associated morphology Flexion deformity false Inferred relationship Some 3
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Finding site Finger structure true Inferred relationship Some 2
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 4
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Associated morphology Dysplasia true Inferred relationship Some 4
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Is a Congenital anomaly of finger true Inferred relationship Some
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Associated morphology Fixed flexion deformity true Inferred relationship Some 3
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Is a Flexion deformity of hand true Inferred relationship Some
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Is a Finding of musculoskeletal structure of digit of hand true Inferred relationship Some
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Is a Congenital deformity of hand true Inferred relationship Some
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Finding site Face structure false Inferred relationship Some 7
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Is a Camptodactyly true Inferred relationship Some
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Is a Congenital abnormal shape of digit false Inferred relationship Some
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Is a Chondrodysplasia true Inferred relationship Some
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Is a Congenital deformity false Inferred relationship Some
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Is a Inherited disorder of connective tissue false Inferred relationship Some
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Occurrence Congenital false Inferred relationship Some 6
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Occurrence Congenital false Inferred relationship Some 7
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Associated morphology Developmental abnormality false Inferred relationship Some 8
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Occurrence Congenital false Inferred relationship Some 8
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Associated morphology Congenital flexion deformity false Inferred relationship Some 9
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Occurrence Congenital false Inferred relationship Some 9
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Finding site Musculoskeletal structure of digit of hand false Inferred relationship Some 9
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Finding site Finger structure false Inferred relationship Some 8
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 6
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Finding site Bone structure false Inferred relationship Some 6
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Associated morphology Developmental abnormality false Inferred relationship Some 7

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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