1162716000: Camptodactyly of finger (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Deformity (finding)\Deformity of limb (finding)\Deformity of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)
\Deformity (finding)\Deformity of limb (finding)\Deformity of upper limb\Deformity of hand\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)
\Deformity (finding)\Deformity of limb (finding)\Deformity of upper limb\Deformity of hand\Flexion deformity of hand\Camptodactyly of finger (disorder)
\Deformity (finding)\Deformity of limb (finding)\Camptodactyly\Camptodactyly of finger (disorder)
\Deformity (finding)\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Camptodactyly\Camptodactyly of finger (disorder)
\Deformity (finding)\Congenital deformity\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)

\Finding of limb structure\Deformity of limb (finding)\Deformity of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)
\Finding of limb structure\Deformity of limb (finding)\Deformity of upper limb\Deformity of hand\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)
\Finding of limb structure\Deformity of limb (finding)\Deformity of upper limb\Deformity of hand\Flexion deformity of hand\Camptodactyly of finger (disorder)
\Finding of limb structure\Deformity of limb (finding)\Camptodactyly\Camptodactyly of finger (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Camptodactyly\Camptodactyly of finger (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Disorder of finger\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Camptodactyly\Camptodactyly of finger (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)
\Finding of limb structure\Finding of upper limb\Deformity of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)
\Finding of limb structure\Finding of upper limb\Deformity of upper limb\Deformity of hand\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)
\Finding of limb structure\Finding of upper limb\Deformity of upper limb\Deformity of hand\Flexion deformity of hand\Camptodactyly of finger (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)
\Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand (finding)\Finding of finger\Finding of musculoskeletal structure of finger\Camptodactyly of finger (disorder)
\Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand (finding)\Finding of finger\Disorder of finger\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)
\Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand (finding)\Finding of musculoskeletal structure of digit of hand\Finding of musculoskeletal structure of finger\Camptodactyly of finger (disorder)
\Finding of limb structure\Finding of upper limb\Finding of hand region\Deformity of hand\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)
\Finding of limb structure\Finding of upper limb\Finding of hand region\Deformity of hand\Flexion deformity of hand\Camptodactyly of finger (disorder)
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)

\Musculoskeletal finding\Finding of musculoskeletal structure of digit of hand\Finding of musculoskeletal structure of finger\Camptodactyly of finger (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Camptodactyly\Camptodactyly of finger (disorder)

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Camptodactyly\Camptodactyly of finger (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital deformity\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Camptodactyly\Camptodactyly of finger (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Camptodactyly\Camptodactyly of finger (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Camptodactyly\Camptodactyly of finger (disorder)
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Camptodactyly\Camptodactyly of finger (disorder)
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)
\Disease\Disorder of limb (disorder)\Disorder of digit\Disorder of finger\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Camptodactyly\Camptodactyly of finger (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Camptodactyly\Camptodactyly of finger (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Camptodactyly\Camptodactyly of finger (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Camptodactyly\Camptodactyly of finger (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)\Camptodactyly of finger (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger (disorder)\Camptodactyly of finger (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4591020019 Camptodactyly of finger (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4591021015 Camptodactyly of finger en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5817581000241118 camptodactylie d'un doigt, sauf le pouce fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5817591000241116 camptodactylie d'un doigt de II à V fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Camptodactyly of finger (disorder)	Is a	Congenital anomaly of finger (disorder)	true	Inferred relationship	Some
Camptodactyly of finger (disorder)	Is a	Camptodactyly	true	Inferred relationship	Some
Camptodactyly of finger (disorder)	Is a	Finding of musculoskeletal structure of finger	true	Inferred relationship	Some
Camptodactyly of finger (disorder)	Is a	Flexion deformity of hand	true	Inferred relationship	Some
Camptodactyly of finger (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Camptodactyly of finger (disorder)	Finding site	Musculoskeletal structure of finger	true	Inferred relationship	Some	1
Camptodactyly of finger (disorder)	Associated morphology	Fixed flexion deformity (morphologic abnormality)	true	Inferred relationship	Some	1
Camptodactyly of finger (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Camptodactyly of finger (disorder)	Is a	Congenital deformity of hand (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.	Is a	True	Camptodactyly of finger (disorder)	Inferred relationship	Some
Camptodactyly of bilateral fingers	Is a	True	Camptodactyly of finger (disorder)	Inferred relationship	Some
Camptodactyly-little finger (disorder)	Is a	True	Camptodactyly of finger (disorder)	Inferred relationship	Some
Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985.	Is a	True	Camptodactyly of finger (disorder)	Inferred relationship	Some
Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation disorder characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected.	Is a	True	Camptodactyly of finger (disorder)	Inferred relationship	Some
Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with striking pterygium, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone trabeculae, cortical thickening of long bones and delayed bone age.	Is a	True	Camptodactyly of finger (disorder)	Inferred relationship	Some

This concept is not in any reference sets