720601000: Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Deformity (finding)\Deformity of limb (finding)\déformation d'un membre supérieur\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Deformity (finding)\Deformity of limb (finding)\déformation d'un membre supérieur\déformation d'une main\Congenital deformity of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Deformity (finding)\Deformity of limb (finding)\déformation d'un membre supérieur\déformation d'une main\déformation en flexion de la main\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Deformity (finding)\Deformity of limb (finding)\Camptodactyly\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Deformity (finding)\anomalie morphologique congénitale\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Deformity (finding)\anomalie morphologique congénitale\Camptodactyly\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \constatation à propos de la structure d'un membre\Deformity of limb (finding)\déformation d'un membre supérieur\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \constatation à propos de la structure d'un membre\Deformity of limb (finding)\déformation d'un membre supérieur\déformation d'une main\Congenital deformity of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \constatation à propos de la structure d'un membre\Deformity of limb (finding)\déformation d'un membre supérieur\déformation d'une main\déformation en flexion de la main\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \constatation à propos de la structure d'un membre\Deformity of limb (finding)\Camptodactyly\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Camptodactyly\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Disorder of finger\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Camptodactyly\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\déformation d'un membre supérieur\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\déformation d'un membre supérieur\déformation d'une main\Congenital deformity of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\déformation d'un membre supérieur\déformation d'une main\déformation en flexion de la main\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Finding of hand region\Finding of digit of hand\Finding of finger\Disorder of finger\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Finding of hand region\Finding of digit of hand\constatation à propos de la structure musculosquelettique d'un doigt de la main\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Finding of hand region\déformation d'une main\Congenital deformity of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Finding of hand region\déformation d'une main\déformation en flexion de la main\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Finding of hand region\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Finding of hand region\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Finding of hand region\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Auditory system hereditary disorder\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \constatation fonctionnelle\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de la structure musculosquelettique d'un doigt de la main\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Camptodactyly\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Auditory system hereditary disorder\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Auditory system hereditary disorder\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Auditory system hereditary disorder\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Camptodactyly\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Camptodactyly\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of digit\Disorder of finger\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\affection d'une extrémité\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Camptodactyly\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Camptodactyly\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Camptodactyly\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Camptodactyly\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Camptodactyly\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Camptodactyly\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Camptodactyly\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\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
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

Expanded Value Set

This concept is not in any reference sets

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