1230354001: Congenital deformity of hand (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)
\Deformity (finding)\Deformity of limb (finding)\Deformity of upper limb\Deformity of hand\Congenital deformity of hand (disorder)
\Deformity (finding)\Congenital deformity\Congenital deformity of upper limb\Congenital deformity of hand (disorder)

\Finding of limb structure\Deformity of limb (finding)\Deformity of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)
\Finding of limb structure\Deformity of limb (finding)\Deformity of upper limb\Deformity of hand\Congenital deformity of hand (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)
\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)
\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)
\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)
\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)
\Finding of limb structure\Finding of upper limb\Deformity of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (disorder)
\Finding of limb structure\Finding of upper limb\Deformity of upper limb\Deformity of hand\Congenital deformity of hand (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)
\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)
\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)
\Finding of limb structure\Finding of upper limb\Finding of hand region\Deformity of hand\Congenital deformity of hand (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)

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital deformity\Congenital deformity of upper limb\Congenital deformity of hand (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)
\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)
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital deformity of hand (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)
\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)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand (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)
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Congenital deformity of upper limb\Congenital deformity of hand (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)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital deformity of hand (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Jun 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5069381019 Congenital deformity of hand (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5069383016 Congenital deformity of hand en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital deformity of hand (disorder)	Is a	Congenital deformity of upper limb	true	Inferred relationship	Some
Congenital deformity of hand (disorder)	Is a	Deformity of hand	true	Inferred relationship	Some
Congenital deformity of hand (disorder)	Is a	Congenital anomaly of hand (disorder)	true	Inferred relationship	Some
Congenital deformity of hand (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital deformity of hand (disorder)	Finding site	Hand structure	true	Inferred relationship	Some	1
Congenital deformity of hand (disorder)	Associated morphology	Deformity	true	Inferred relationship	Some	1
Congenital deformity of hand (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Acrodysostosis	Is a	True	Congenital deformity of hand (disorder)	Inferred relationship	Some
Manus plana	Is a	True	Congenital deformity of hand (disorder)	Inferred relationship	Some
Manus valga	Is a	True	Congenital deformity of hand (disorder)	Inferred relationship	Some
Manus cava	Is a	True	Congenital deformity of hand (disorder)	Inferred relationship	Some
Manus vara	Is a	True	Congenital deformity of hand (disorder)	Inferred relationship	Some
Thumb in palm deformity	Is a	True	Congenital deformity of hand (disorder)	Inferred relationship	Some
Acromicric dysplasia	Is a	True	Congenital deformity of hand (disorder)	Inferred relationship	Some
Brachydactyly of hand	Is a	True	Congenital deformity of hand (disorder)	Inferred relationship	Some
Deformity of digit of hand due to amniotic band (disorder)	Is a	True	Congenital deformity of hand (disorder)	Inferred relationship	Some
Longitudinal deficiency of phalanges of hand	Is a	True	Congenital deformity of hand (disorder)	Inferred relationship	Some
Longitudinal deficiency of metacarpal bone	Is a	True	Congenital deformity of hand (disorder)	Inferred relationship	Some
An X-linked clinical subtype of L1 syndrome with characteristics of mild to moderate intellectual disability, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs and mild to moderate distension of the cerebral ventricles.	Is a	True	Congenital deformity of hand (disorder)	Inferred relationship	Some
Congenital spade-like hand	Is a	True	Congenital deformity of hand (disorder)	Inferred relationship	Some
Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females.	Is a	False	Congenital deformity of hand (disorder)	Inferred relationship	Some
Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics.	Is a	True	Congenital deformity of hand (disorder)	Inferred relationship	Some
A rare syndrome characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed.	Is a	True	Congenital deformity of hand (disorder)	Inferred relationship	Some
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.	Is a	True	Congenital deformity of hand (disorder)	Inferred relationship	Some
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.	Is a	True	Congenital deformity of hand (disorder)	Inferred relationship	Some
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies.	Is a	True	Congenital deformity of hand (disorder)	Inferred relationship	Some
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.	Is a	True	Congenital deformity of hand (disorder)	Inferred relationship	Some
A rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis. There have been no new reports since 1981.	Is a	True	Congenital deformity of hand (disorder)	Inferred relationship	Some
Congenital deformity of right hand (disorder)	Is a	True	Congenital deformity of hand (disorder)	Inferred relationship	Some
Congenital deformity of left hand (disorder)	Is a	True	Congenital deformity of hand (disorder)	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.	Is a	True	Congenital deformity of hand (disorder)	Inferred relationship	Some
A congenital malformation of the digits characterised by various degree of shortening of the distal phalanx of the thumb, either unilaterally or bilaterally. Great toes may be similarly affected. Inherited as an autosomal dominant trait.	Is a	False	Congenital deformity of hand (disorder)	Inferred relationship	Some
A congenital malformation characterised by shortening of the middle phalanx of the fifth finger. Inherited as an autosomal dominant trait.	Is a	False	Congenital deformity of hand (disorder)	Inferred relationship	Some
Congenital clinodactyly of finger	Is a	True	Congenital deformity of hand (disorder)	Inferred relationship	Some
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	Congenital deformity of hand (disorder)	Inferred relationship	Some
Camptodactyly of finger (disorder)	Is a	True	Congenital deformity of hand (disorder)	Inferred relationship	Some
Sugarman brachydactyly is a rare, genetic, congenital limb malformation characterized by brachydactyly of fingers, with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. There have been no further descriptions in the literature since 1982.	Is a	True	Congenital deformity of hand (disorder)	Inferred relationship	Some
Correction of congenital deformity of hand	Has focus	True	Congenital deformity of hand (disorder)	Inferred relationship	Some	2
Congenital clinodactyly of ring finger (disorder)	Is a	True	Congenital deformity of hand (disorder)	Inferred relationship	Some
Congenital clinodactyly of middle finger	Is a	True	Congenital deformity of hand (disorder)	Inferred relationship	Some
Congenital clinodactyly of index finger	Is a	True	Congenital deformity of hand (disorder)	Inferred relationship	Some
Congenital clinodactyly of distal phalanx of little finger (disorder)	Is a	True	Congenital deformity of hand (disorder)	Inferred relationship	Some
Abnormally short index finger	Is a	True	Congenital deformity of hand (disorder)	Inferred relationship	Some
Abnormally short fourth metacarpal	Is a	True	Congenital deformity of hand (disorder)	Inferred relationship	Some
Abnormally short little finger (disorder)	Is a	True	Congenital deformity of hand (disorder)	Inferred relationship	Some
Abnormally short fifth metacarpal	Is a	True	Congenital deformity of hand (disorder)	Inferred relationship	Some
Abnormally short first metacarpal (disorder)	Is a	True	Congenital deformity of hand (disorder)	Inferred relationship	Some
Abnormally short middle finger (disorder)	Is a	True	Congenital deformity of hand (disorder)	Inferred relationship	Some
Abnormally short phalanx of finger (disorder)	Is a	True	Congenital deformity of hand (disorder)	Inferred relationship	Some
Abnormally short phalanx of thumb (disorder)	Is a	True	Congenital deformity of hand (disorder)	Inferred relationship	Some
Abnormally short second metacarpal	Is a	True	Congenital deformity of hand (disorder)	Inferred relationship	Some
Abnormally short third metacarpal (disorder)	Is a	True	Congenital deformity of hand (disorder)	Inferred relationship	Some
Abnormally short ring finger (disorder)	Is a	True	Congenital deformity of hand (disorder)	Inferred relationship	Some

Reference Sets

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Id	Description	Lang	Type	Status	Case?	Module
5069381019	Congenital deformity of hand (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5069383016	Congenital deformity of hand	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core