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720600004: Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (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
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
5402422015 An extremely rare chondrodysplastic malformation syndrome characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. There have been no further descriptions in the literature since 1972. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402423013 An extremely rare chondrodysplastic malformation syndrome characterised by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. There have been no further descriptions in the literature since 1972. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3321496019 Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
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
5402422015 An extremely rare chondrodysplastic malformation syndrome characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. There have been no further descriptions in the literature since 1972. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402423013 An extremely rare chondrodysplastic malformation syndrome characterised by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. There have been no further descriptions in the literature since 1972. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3439021001000116 Kamptodaktylie-fibröse Gewebehyperplasie-Skelettdysplasie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
934451000172112 camptodactylie de Goodman fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
989891000172114 syndrome de camptodactylie-dysplasie osseuse fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
934451000172112 camptodactylie de Goodman fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
989891000172114 syndrome de camptodactylie-dysplasie osseuse fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3439021001000116 Kamptodaktylie-fibröse Gewebehyperplasie-Skelettdysplasie-Syndrom 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
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 7
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Is a Camptodactyly true Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Is a Congenital abnormal shape of digit false Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Is a Chondrodysplasia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Is a Congenital deformity (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 7
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 8
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 8
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Associated morphology Congenital flexion deformity false Inferred relationship Existential restriction modifier (core metadata concept) 9
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 9
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Finding site Musculoskeletal structure of digit of hand false Inferred relationship Existential restriction modifier (core metadata concept) 9
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Finding site Finger structure false Inferred relationship Existential restriction modifier (core metadata concept) 8
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 6
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 7
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Finding site Musculoskeletal structure of digit of hand true Inferred relationship Existential restriction modifier (core metadata concept) 3
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Associated morphology Flexion deformity false Inferred relationship Existential restriction modifier (core metadata concept) 3
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Finding site Finger structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 4
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 4
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Is a Congenital anomaly of finger true Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Associated morphology Fixed flexion deformity (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Is a Flexion deformity of hand true Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Is a Finding of musculoskeletal structure of digit of hand true Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Is a Congenital deformity of hand (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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