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

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of limb\Deformity of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Deformity\Deformity of limb\Deformity of upper limb\Deformity of hand\Congenital deformity of hand\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Deformity\Deformity of limb\Deformity of upper limb\Deformity of hand\Flexion deformity of hand\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Deformity\Deformity of limb\Camptodactyly\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Deformity\Congenital deformity\Congenital deformity of upper limb\Congenital deformity of hand\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Deformity\Congenital deformity\Camptodactyly\Camptodactyly and tall stature with scoliosis and hearing loss syndrome

\Finding of limb structure\Deformity of limb\Deformity of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Finding of limb structure\Deformity of limb\Deformity of upper limb\Deformity of hand\Congenital deformity of hand\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Finding of limb structure\Deformity of limb\Deformity of upper limb\Deformity of hand\Flexion deformity of hand\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Finding of limb structure\Deformity of limb\Camptodactyly\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Disorder of finger\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of hand\Disorder of finger\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital deformity of hand\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital deformity of hand\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital deformity of hand\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Finding of limb structure\Finding of upper limb\Deformity of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Finding of limb structure\Finding of upper limb\Deformity of upper limb\Deformity of hand\Congenital deformity of hand\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Finding of limb structure\Finding of upper limb\Deformity of upper limb\Deformity of hand\Flexion deformity of hand\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of hand\Disorder of finger\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital deformity of hand\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital deformity of hand\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Finding of limb structure\Finding of upper limb\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
\Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand\Finding of musculoskeletal structure of digit of hand\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Deformity of hand\Congenital deformity of hand\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Deformity of hand\Flexion deformity of hand\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand\Disorder of finger\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand\Congenital anomaly of hand\Congenital deformity of hand\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Camptodactyly and tall stature with scoliosis and hearing loss syndrome

\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Camptodactyly and tall stature with scoliosis and hearing loss syndrome

\Musculoskeletal finding\Finding of musculoskeletal structure of digit of hand\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Camptodactyly\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Camptodactyly and tall stature with scoliosis and hearing loss syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Camptodactyly\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Disorder of extremity\Disorder of digit\Disorder of finger\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of hand\Disorder of finger\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital deformity of hand\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital deformity of hand\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital deformity of hand\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Congenital deformity of upper limb\Congenital deformity of hand\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Camptodactyly\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Camptodactyly\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital deformity of hand\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Congenital deformity of upper limb\Congenital deformity of hand\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Camptodactyly\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Camptodactyly\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital deformity of hand\Camptodactyly and tall stature with scoliosis and hearing loss syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of finger\Camptodactyly and tall stature with scoliosis and hearing loss syndrome

Status: current, Primitive. 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 Active Case sensitive SNOMED CT core

3321504014 Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3321505010 Camptodactyly and tall stature with scoliosis and hearing loss syndrome en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Camptodactyly and tall stature with scoliosis and hearing loss syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Camptodactyly and tall stature with scoliosis and hearing loss syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Camptodactyly and tall stature with scoliosis and hearing loss syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Camptodactyly and tall stature with scoliosis and hearing loss syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Camptodactyly and tall stature with scoliosis and hearing loss syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Camptodactyly and tall stature with scoliosis and hearing loss syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Camptodactyly and tall stature with scoliosis and hearing loss syndrome	Finding site	Bone structure	true	Inferred relationship	Some	3
Camptodactyly and tall stature with scoliosis and hearing loss syndrome	Finding site	Finger structure	true	Inferred relationship	Some	2
Camptodactyly and tall stature with scoliosis and hearing loss syndrome	Finding site	Musculoskeletal structure of digit of hand	true	Inferred relationship	Some	1
Camptodactyly and tall stature with scoliosis and hearing loss syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Camptodactyly and tall stature with scoliosis and hearing loss syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Camptodactyly and tall stature with scoliosis and hearing loss syndrome	Associated morphology	Flexion deformity	false	Inferred relationship	Some	1
Camptodactyly and tall stature with scoliosis and hearing loss syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	3
Camptodactyly and tall stature with scoliosis and hearing loss syndrome	Is a	Congenital anomaly of finger	true	Inferred relationship	Some
Camptodactyly and tall stature with scoliosis and hearing loss syndrome	Associated morphology	Fixed flexion deformity	true	Inferred relationship	Some	1
Camptodactyly and tall stature with scoliosis and hearing loss syndrome	Finding site	Structure of auditory system	true	Inferred relationship	Some	4
Camptodactyly and tall stature with scoliosis and hearing loss syndrome	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Camptodactyly and tall stature with scoliosis and hearing loss syndrome	Interprets	Hearing	true	Inferred relationship	Some	5
Camptodactyly and tall stature with scoliosis and hearing loss syndrome	Is a	Flexion deformity of hand	true	Inferred relationship	Some
Camptodactyly and tall stature with scoliosis and hearing loss syndrome	Is a	Finding of musculoskeletal structure of digit of hand	true	Inferred relationship	Some
Camptodactyly and tall stature with scoliosis and hearing loss syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Camptodactyly and tall stature with scoliosis and hearing loss syndrome	Is a	Congenital deformity of hand	true	Inferred relationship	Some
Camptodactyly and tall stature with scoliosis and hearing loss syndrome	Is a	Autosomal hereditary disorder	true	Inferred relationship	Some
Camptodactyly and tall stature with scoliosis and hearing loss syndrome	Is a	Camptodactyly	true	Inferred relationship	Some
Camptodactyly and tall stature with scoliosis and hearing loss syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Camptodactyly and tall stature with scoliosis and hearing loss syndrome	Is a	Congenital abnormal shape of digit	false	Inferred relationship	Some
Camptodactyly and tall stature with scoliosis and hearing loss syndrome	Is a	Dysostosis	true	Inferred relationship	Some
Camptodactyly and tall stature with scoliosis and hearing loss syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Camptodactyly and tall stature with scoliosis and hearing loss syndrome	Is a	Congenital deformity	false	Inferred relationship	Some
Camptodactyly and tall stature with scoliosis and hearing loss syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Camptodactyly and tall stature with scoliosis and hearing loss syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Camptodactyly and tall stature with scoliosis and hearing loss syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Camptodactyly and tall stature with scoliosis and hearing loss syndrome	Finding site	Ear structure	false	Inferred relationship	Some	4
Camptodactyly and tall stature with scoliosis and hearing loss syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Camptodactyly and tall stature with scoliosis and hearing loss syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
Camptodactyly and tall stature with scoliosis and hearing loss syndrome	Occurrence	Congenital	false	Inferred relationship	Some	7
Camptodactyly and tall stature with scoliosis and hearing loss syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	6
Camptodactyly and tall stature with scoliosis and hearing loss syndrome	Finding site	Finger structure	false	Inferred relationship	Some	6
Camptodactyly and tall stature with scoliosis and hearing loss syndrome	Associated morphology	Congenital flexion deformity	false	Inferred relationship	Some	5
Camptodactyly and tall stature with scoliosis and hearing loss syndrome	Finding site	Musculoskeletal structure of digit of hand	false	Inferred relationship	Some	5
Camptodactyly and tall stature with scoliosis and hearing loss syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	7
Camptodactyly and tall stature with scoliosis and hearing loss syndrome	Finding site	Bone structure	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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3321502013	CATSHL (camptodactyly, tall stature, scoliosis, hearing loss) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3321504014	Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3321505010	Camptodactyly and tall stature with scoliosis and hearing loss syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core