310792004: Musculoskeletal structure of digit of hand (body structure)

SNOMED CT Concept\Body structure (body structure)\Anatomical or acquired body structure (body structure)\Anatomical structure\...

\Body system structure\Structure of musculoskeletal system (body structure)\Structure of regional musculoskeletal system (body structure)\Musculoskeletal structure of limb\...

\Musculoskeletal system structure of digit (body structure)\Musculoskeletal structure of digit of hand

\Musculoskeletal structure of upper limb\Musculoskeletal structure of hand\Musculoskeletal structure of digit of hand

\Body region structure\Structure of half of body lateral to midsagittal plane (body structure)\Limb structure\Musculoskeletal structure of limb\Musculoskeletal system structure of digit (body structure)\Musculoskeletal structure of digit of hand
\Body region structure\Structure of half of body lateral to midsagittal plane (body structure)\Limb structure\Musculoskeletal structure of limb\Musculoskeletal structure of upper limb\Musculoskeletal structure of hand\Musculoskeletal structure of digit of hand
\Body region structure\Structure of half of body lateral to midsagittal plane (body structure)\Limb structure\Limb part (body structure)\Upper limb part\Musculoskeletal structure of upper limb\Musculoskeletal structure of hand\Musculoskeletal structure of digit of hand
\Body region structure\Structure of half of body lateral to midsagittal plane (body structure)\Limb structure\Limb part (body structure)\Upper limb part\Structure of regional part of upper limb (body structure)\Structure of free upper limb\Structure of wrist and/or hand (body structure)\Hand structure\Hand part\Musculoskeletal structure of hand\Musculoskeletal structure of digit of hand
\Body region structure\Structure of half of body lateral to midsagittal plane (body structure)\Limb structure\Limb part (body structure)\Upper limb part\Structure of regional part of upper limb (body structure)\Structure of free upper limb\Structure of wrist and/or hand (body structure)\Hand structure\Hand part\Region of hand\Digit of hand structure\Musculoskeletal structure of digit of hand
\Body region structure\Structure of half of body lateral to midsagittal plane (body structure)\Limb structure\Limb part (body structure)\Digit structure\Musculoskeletal system structure of digit (body structure)\Musculoskeletal structure of digit of hand
\Body region structure\Structure of half of body lateral to midsagittal plane (body structure)\Limb structure\Limb part (body structure)\Digit structure\Digit of hand structure\Musculoskeletal structure of digit of hand
\Body region structure\Structure of half of body lateral to midsagittal plane (body structure)\Limb structure\Upper extremity, including shoulder, arm, forearm, wrist, and hand\Upper limb part\Musculoskeletal structure of upper limb\Musculoskeletal structure of hand\Musculoskeletal structure of digit of hand
\Body region structure\Structure of half of body lateral to midsagittal plane (body structure)\Limb structure\Upper extremity, including shoulder, arm, forearm, wrist, and hand\Upper limb part\Structure of regional part of upper limb (body structure)\Structure of free upper limb\Structure of wrist and/or hand (body structure)\Hand structure\Hand part\Musculoskeletal structure of hand\Musculoskeletal structure of digit of hand
\Body region structure\Structure of half of body lateral to midsagittal plane (body structure)\Limb structure\Upper extremity, including shoulder, arm, forearm, wrist, and hand\Upper limb part\Structure of regional part of upper limb (body structure)\Structure of free upper limb\Structure of wrist and/or hand (body structure)\Hand structure\Hand part\Region of hand\Digit of hand structure\Musculoskeletal structure of digit of hand
\Body region structure\Structure of regional musculoskeletal system (body structure)\Musculoskeletal structure of limb\Musculoskeletal system structure of digit (body structure)\Musculoskeletal structure of digit of hand
\Body region structure\Structure of regional musculoskeletal system (body structure)\Musculoskeletal structure of limb\Musculoskeletal structure of upper limb\Musculoskeletal structure of hand\Musculoskeletal structure of digit of hand
\Body region structure\Body part structure\Upper body structure\Upper body part structure\Upper limb part\Musculoskeletal structure of upper limb\Musculoskeletal structure of hand\Musculoskeletal structure of digit of hand
\Body region structure\Body part structure\Upper body structure\Upper body part structure\Upper limb part\Structure of regional part of upper limb (body structure)\Structure of free upper limb\Structure of wrist and/or hand (body structure)\Hand structure\Hand part\Musculoskeletal structure of hand\Musculoskeletal structure of digit of hand
\Body region structure\Body part structure\Upper body structure\Upper body part structure\Upper limb part\Structure of regional part of upper limb (body structure)\Structure of free upper limb\Structure of wrist and/or hand (body structure)\Hand structure\Hand part\Region of hand\Digit of hand structure\Musculoskeletal structure of digit of hand
\Body region structure\Body part structure\Limb structure\Musculoskeletal structure of limb\Musculoskeletal system structure of digit (body structure)\Musculoskeletal structure of digit of hand
\Body region structure\Body part structure\Limb structure\Musculoskeletal structure of limb\Musculoskeletal structure of upper limb\Musculoskeletal structure of hand\Musculoskeletal structure of digit of hand
\Body region structure\Body part structure\Limb structure\Limb part (body structure)\Upper limb part\Musculoskeletal structure of upper limb\Musculoskeletal structure of hand\Musculoskeletal structure of digit of hand
\Body region structure\Body part structure\Limb structure\Limb part (body structure)\Upper limb part\Structure of regional part of upper limb (body structure)\Structure of free upper limb\Structure of wrist and/or hand (body structure)\Hand structure\Hand part\Musculoskeletal structure of hand\Musculoskeletal structure of digit of hand
\Body region structure\Body part structure\Limb structure\Limb part (body structure)\Upper limb part\Structure of regional part of upper limb (body structure)\Structure of free upper limb\Structure of wrist and/or hand (body structure)\Hand structure\Hand part\Region of hand\Digit of hand structure\Musculoskeletal structure of digit of hand
\Body region structure\Body part structure\Limb structure\Limb part (body structure)\Digit structure\Musculoskeletal system structure of digit (body structure)\Musculoskeletal structure of digit of hand
\Body region structure\Body part structure\Limb structure\Limb part (body structure)\Digit structure\Digit of hand structure\Musculoskeletal structure of digit of hand
\Body region structure\Body part structure\Limb structure\Upper extremity, including shoulder, arm, forearm, wrist, and hand\Upper limb part\Musculoskeletal structure of upper limb\Musculoskeletal structure of hand\Musculoskeletal structure of digit of hand
\Body region structure\Body part structure\Limb structure\Upper extremity, including shoulder, arm, forearm, wrist, and hand\Upper limb part\Structure of regional part of upper limb (body structure)\Structure of free upper limb\Structure of wrist and/or hand (body structure)\Hand structure\Hand part\Musculoskeletal structure of hand\Musculoskeletal structure of digit of hand
\Body region structure\Body part structure\Limb structure\Upper extremity, including shoulder, arm, forearm, wrist, and hand\Upper limb part\Structure of regional part of upper limb (body structure)\Structure of free upper limb\Structure of wrist and/or hand (body structure)\Hand structure\Hand part\Region of hand\Digit of hand structure\Musculoskeletal structure of digit of hand

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

454305015 Musculoskeletal structure of digit of hand en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

707281016 Musculoskeletal structure of digit of hand (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Musculoskeletal structure of digit of hand	Is a	Musculoskeletal system structure of digit (body structure)	true	Inferred relationship	Some
Musculoskeletal structure of digit of hand	Is a	Musculoskeletal structure of hand	true	Inferred relationship	Some
Musculoskeletal structure of digit of hand	Part of	Entire hand	false	Additional relationship	Some
Musculoskeletal structure of digit of hand	Is a	Digit of hand structure	true	Inferred relationship	Some
Musculoskeletal structure of digit of hand	Laterality	Side (qualifier value)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Musculoskeletal structure of thumb	Is a	True	Musculoskeletal structure of digit of hand	Inferred relationship	Some
Musculoskeletal structure of finger	Is a	True	Musculoskeletal structure of digit of hand	Inferred relationship	Some
Bone structure of phalanx of hand	Is a	True	Musculoskeletal structure of digit of hand	Inferred relationship	Some
Radial polydactyly Wassel 1	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some
Radial polydactyly Wassel 2	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some
Radial polydactyly Wassel 3	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some
Radial polydactyly Wassel 4	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some
Radial polydactyly Wassel 5	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some
Radial polydactyly Wassel 6	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some
Radial polydactyly Wassel 7	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some
Radial polydactyly	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some
Transverse arrest phalangeal level first ray	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some
Transverse arrest phalangeal level second ray	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some
Transverse arrest phalangeal level third ray	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some
Transverse arrest phalangeal level fourth ray	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some
Transverse arrest phalangeal level fifth ray	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some
Acrosyndactyly of upper limb	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some	1
Clinodactyly with delta phalanx	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some
Clinodactyly, with no delta phalanx	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some
Congenital contractural arachnodactyly	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some
Dactylitis	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some
Macrodactyly of hand	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some
Brachydactyly of hand	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some	1
Synbrachydactyly of hand	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some	1
Congenital clinodactyly	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some
Camptodactyly	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some	1
Congenital absence of all fingers	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some	2
Arachnodactyly	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some
Brachydactyly-all 3 phalanges	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some	1
Brachydactyly-missing phalanx	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some	1
Camptodactyly-little finger (disorder)	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some	2
Congenital absence finger NOS	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some	2
Brachydactyly of fingers, unspecified	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some	1
Camptodactyly-other or multiple	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some	2
Brachysyndactyly of thumb	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some	2
Finding of musculoskeletal structure of digit of hand	Finding site	True	Musculoskeletal structure of digit of hand	Inferred relationship	Some	1
On examination - hands - arachnodactyly	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some
Acrosyndactyly of upper limb	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some	1
Camptodactyly-little finger (disorder)	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some	2
Brachydactyly-all 3 phalanges	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some	1
Camptodactyly	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some	1
Camptodactyly-other or multiple	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some	2
Brachydactyly of fingers, unspecified	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some	1
Synbrachydactyly of hand	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some	1
Brachydactyly of hand	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some	1
Brachydactyly-missing phalanx	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some	1
Acrosyndactyly of upper limb	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some	4
Synbrachydactyly of hand	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some	2
Synbrachydactyly of hand	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some	3
Brachydactyly-missing phalanx	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some	2
Brachydactyly-all 3 phalanges	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some	2
Acrosyndactyly of the fingers	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some	3
Structure of phalanx of hand	Is a	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some
A rare syndrome characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive.	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some	7
A rare multiple congenital anomalies syndrome characterized by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline).	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some	4
Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics.	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some	6
An extremely rare chondrodysplastic malformation syndrome characterised by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. There have been no further descriptions in the literature since 1972.	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some	9
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies.	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some	5
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.	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some	6
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.	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some	5
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some	7
Entire musculoskeletal system of digit of hand (body structure)	Is a	True	Musculoskeletal structure of digit of hand	Inferred relationship	Some
Musculoskeletal structure of digit of left hand (body structure)	Is a	True	Musculoskeletal structure of digit of hand	Inferred relationship	Some
Musculoskeletal structure of digit of right hand	Is a	True	Musculoskeletal structure of digit of hand	Inferred relationship	Some
Structure of tendon sheath of flexor tendon of digit	Is a	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some
Camptodactyly-little finger (disorder)	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some	1
A rare multiple congenital anomalies syndrome characterized by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline).	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some	2
A rare syndrome characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive.	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some	2
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.	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some	1
Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics.	Finding site	True	Musculoskeletal structure of digit of hand	Inferred relationship	Some	3
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.	Finding site	True	Musculoskeletal structure of digit of hand	Inferred relationship	Some	1
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies.	Finding site	True	Musculoskeletal structure of digit of hand	Inferred relationship	Some	1
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.	Finding site	True	Musculoskeletal structure of digit of hand	Inferred relationship	Some	2
An extremely rare chondrodysplastic malformation syndrome characterised by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. There have been no further descriptions in the literature since 1972.	Finding site	True	Musculoskeletal structure of digit of hand	Inferred relationship	Some	3
Structure of joint of digit of hand (body structure)	Is a	True	Musculoskeletal structure of digit of hand	Inferred relationship	Some
A rare, genetic developmental defect during embryogenesis syndrome characterized by camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism, and microcephaly. There have been no further descriptions in the literature since 1992.	Finding site	True	Musculoskeletal structure of digit of hand	Inferred relationship	Some	5
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.	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some	5
A rare, genetic, congenital limb malformation syndrome characterised by a unique combination of bilateral, symmetrical camptodactyly and clinodactyly of 5th fingers, mesoaxial camptodactyly of toes, and ulnar deviation of 3rd fingers. Additional variable manifestations include bifid toes and severe syndactyly, or synpolydactyly, involving all digits of hands and feet.	Finding site	True	Musculoskeletal structure of digit of hand	Inferred relationship	Some	3
A rare, genetic developmental defect during embryogenesis syndrome characterized by camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism, and microcephaly. There have been no further descriptions in the literature since 1992.	Finding site	False	Musculoskeletal structure of digit of hand	Inferred relationship	Some	9
Structure of flexor tendon sheath within digit of hand (body structure)	Is a	True	Musculoskeletal structure of digit of hand	Inferred relationship	Some

Reference Sets

Lateralizable body structure reference set (foundation metadata concept)

Anatomy structure and entire association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
454305015	Musculoskeletal structure of digit of hand	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
707281016	Musculoskeletal structure of digit of hand (body structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core