238855000: Hereditary camptodactyly (disorder)

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

\Deformity (finding)\Deformity of limb (finding)\Camptodactyly\Hereditary camptodactyly
\Deformity (finding)\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Camptodactyly\Hereditary camptodactyly

\Finding of limb structure\Deformity of limb (finding)\Camptodactyly\Hereditary camptodactyly
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Camptodactyly\Hereditary camptodactyly
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Camptodactyly\Hereditary camptodactyly

\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\...

\Hereditary disorder of musculoskeletal system\Hereditary camptodactyly

\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Camptodactyly\Hereditary camptodactyly

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary camptodactyly
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary camptodactyly
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder (disorder)\Hereditary camptodactyly
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Camptodactyly\Hereditary camptodactyly
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Camptodactyly\Hereditary camptodactyly
\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\Hereditary camptodactyly
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary camptodactyly
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Hereditary camptodactyly
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Camptodactyly\Hereditary camptodactyly
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Camptodactyly\Hereditary camptodactyly
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Camptodactyly\Hereditary camptodactyly
\Disease\Developmental disorder\Developmental hereditary disorder\Hereditary camptodactyly
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Congenital deformity of musculoskeletal system (disorder)\Camptodactyly\Hereditary camptodactyly
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital deformity of musculoskeletal system (disorder)\Camptodactyly\Hereditary camptodactyly
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Camptodactyly\Hereditary camptodactyly

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

357976017 Hereditary camptodactyly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

627792014 Hereditary camptodactyly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5025891000241117 camptodactylie héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary camptodactyly	Is a	Palmar and plantar fibromatosis	false	Inferred relationship	Some
Hereditary camptodactyly	Finding site	Fascia of hand	false	Inferred relationship	Some
Hereditary camptodactyly	Finding site	structure d'une aponévrose plantaire	false	Inferred relationship	Some	1
Hereditary camptodactyly	Associated morphology	Fibromatosis	false	Inferred relationship	Some	1
Hereditary camptodactyly	Finding site	Structure of soft tissue (body structure)	false	Inferred relationship	Some
Hereditary camptodactyly	Associated morphology	Fibromatosis	false	Inferred relationship	Some	2
Hereditary camptodactyly	Finding site	Palmar aponeurosis structure	false	Inferred relationship	Some
Hereditary camptodactyly	Finding site	Palm (region) structure	false	Inferred relationship	Some	2
Hereditary camptodactyly	Associated morphology	Contracture	false	Inferred relationship	Some
Hereditary camptodactyly	Associated morphology	Fibromatosis	false	Inferred relationship	Some	2
Hereditary camptodactyly	Is a	Superficial fibromatosis	false	Inferred relationship	Some
Hereditary camptodactyly	Finding site	Structure of musculoskeletal system (body structure)	false	Inferred relationship	Some	1
Hereditary camptodactyly	Finding site	Connective tissue structure	false	Inferred relationship	Some
Hereditary camptodactyly	Finding site	Structure of musculoskeletal system (body structure)	false	Inferred relationship	Some	1
Hereditary camptodactyly	Associated morphology	Fibromatosis	false	Inferred relationship	Some	1
Hereditary camptodactyly	Is a	Autosomal dominant hereditary disorder (disorder)	true	Inferred relationship	Some
Hereditary camptodactyly	Is a	Camptodactyly	true	Inferred relationship	Some
Hereditary camptodactyly	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Hereditary camptodactyly	Occurrence	Congenital	true	Inferred relationship	Some	1
Hereditary camptodactyly	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Hereditary camptodactyly	Associated morphology	Fixed flexion deformity (morphologic abnormality)	true	Inferred relationship	Some	1
Hereditary camptodactyly	Finding site	Musculoskeletal system structure of digit (body structure)	true	Inferred relationship	Some	1
Hereditary camptodactyly	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972.	Is a	True	Hereditary camptodactyly	Inferred relationship	Some
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	Hereditary camptodactyly	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
357976017	Hereditary camptodactyly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
627792014	Hereditary camptodactyly (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5025891000241117	camptodactylie héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module