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102284009: Congenital flexion deformity (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    165439012 Congenital flexion deformity en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    539607018 Congenital flexion deformity (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital flexion deformity Is a anomalie du développement false Inferred relationship Some
    Congenital flexion deformity Is a anomalie congénitale du développement false Inferred relationship Some
    Congenital flexion deformity Is a Congenital deformity false Inferred relationship Some
    Congenital flexion deformity Is a Flexion deformity false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Congenital hyperflexion of limb Associated morphology False Congenital flexion deformity Inferred relationship Some 1
    Congenital hyperflexion of paw Associated morphology False Congenital flexion deformity Inferred relationship Some 1
    Congenital hammer toe Associated morphology False Congenital flexion deformity Inferred relationship Some 1
    Congenital hammer toe Associated morphology False Congenital flexion deformity Inferred relationship Some 1
    Congenital hyperflexion of limb Associated morphology False Congenital flexion deformity Inferred relationship Some 1
    Congenital hyperflexion of paw Associated morphology False Congenital flexion deformity Inferred relationship Some 1
    Congenital hammer toe Associated morphology False Congenital flexion deformity Inferred relationship Some 2
    Thumb in palm deformity Associated morphology False Congenital flexion deformity Inferred relationship Some 3
    Congenital hyperflexion of limb Associated morphology False Congenital flexion deformity Inferred relationship Some 3
    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. Associated morphology False Congenital flexion deformity Inferred relationship Some 9
    Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. Associated morphology False Congenital flexion deformity 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. Associated morphology False Congenital flexion deformity 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. Associated morphology False Congenital flexion deformity Inferred relationship Some 5
    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. Associated morphology False Congenital flexion deformity Inferred relationship Some 2
    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. Associated morphology False Congenital flexion deformity Inferred relationship Some 4
    Correction of camptodactyly Direct morphology False Congenital flexion deformity Inferred relationship Some 2

    Reference Sets

    Concept inactivation indicator reference set

    SAME AS association reference set (foundation metadata concept)

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