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720601000: Camptodactyly and tall stature with scoliosis and hearing loss 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
3321502013 CATSHL (camptodactyly, tall stature, scoliosis, hearing loss) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3321504014 Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3321505010 Camptodactyly and tall stature with scoliosis and hearing loss syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5402424019 Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402425018 Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3321502013 CATSHL (camptodactyly, tall stature, scoliosis, hearing loss) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3321504014 Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3321504014 Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3321505010 Camptodactyly and tall stature with scoliosis and hearing loss syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3321505010 Camptodactyly and tall stature with scoliosis and hearing loss syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3321503015 This syndrome has characteristics of camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402424019 Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402425018 Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3453621001000111 Kamptodaktylie - Hochwuchs - Skoliose - Hörverlust de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5816411000241113 syndrome CATSHL (camptodactyly, tall stature, scoliosis, and hearing loss) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5816421000241118 syndrome de camptodactylie, grande taille, scoliose et perte auditive fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5816411000241113 syndrome CATSHL (camptodactyly, tall stature, scoliosis, and hearing loss) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5816421000241118 syndrome de camptodactylie, grande taille, scoliose et perte auditive fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3453621001000111 Kamptodaktylie - Hochwuchs - Skoliose - Hörverlust 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 and tall stature with scoliosis and hearing loss syndrome (disorder) Is a Autosomal hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Is a Camptodactyly true Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Is a Congenital abnormal shape of digit false Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Is a Dysostosis true Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Is a Hearing loss associated with syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Is a Congenital deformity (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Is a Auditory system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Finding site Ear structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 7
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 6
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Finding site Finger structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Associated morphology Congenital flexion deformity false Inferred relationship Existential restriction modifier (core metadata concept) 5
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Finding site Musculoskeletal structure of digit of hand false Inferred relationship Existential restriction modifier (core metadata concept) 5
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 7
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 7
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Finding site Finger structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Finding site Musculoskeletal structure of digit of hand true Inferred relationship Existential restriction modifier (core metadata concept) 1
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 3
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Associated morphology Flexion deformity false Inferred relationship Existential restriction modifier (core metadata concept) 1
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 3
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Is a Congenital anomaly of finger true Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Associated morphology Fixed flexion deformity (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Finding site Structure of auditory system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Is a Congenital hearing disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Interprets Hearing true Inferred relationship Existential restriction modifier (core metadata concept) 5
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Is a Flexion deformity of hand true Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Is a Finding of musculoskeletal structure of digit of hand true Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly and tall stature with scoliosis and hearing loss 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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