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271084006: Deformity of bone (disorder)


    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Dec 2023. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    405670016 Deformity of bone en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    663465017 Deformity of bone (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    2241881000005117 Knogledeformitet da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)


    0 descendants.

    Expanded Value Set


    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Knogledeformitet Is a Acquired skeletal deformity (disorder) false Inferred relationship Some
    Knogledeformitet Is a Disorder of bone (disorder) false Inferred relationship Some
    Knogledeformitet Associated morphology Erhvervet deformitet false Inferred relationship Some 1
    Knogledeformitet Finding site Structure of musculoskeletal system (body structure) false Inferred relationship Some 1
    Knogledeformitet Finding site Bone structure false Inferred relationship Some 1
    Knogledeformitet Finding site Skeletal system structure false Inferred relationship Some
    Knogledeformitet Associated morphology Deformity (morphologic abnormality) false Inferred relationship Some 1
    Knogledeformitet Is a Deformity (finding) false Inferred relationship Some
    Knogledeformitet Finding site Bone structure false Inferred relationship Some 1
    Knogledeformitet Associated morphology Deformity (morphologic abnormality) false Inferred relationship Some 1

    Inbound Relationships Type Active Source Characteristic Refinability Group
    Acquired deformity of clavicle Is a False Knogledeformitet Inferred relationship Some
    Acquired deformity of scapula Is a False Knogledeformitet Inferred relationship Some
    erhvervet bækkendeformitet Is a False Knogledeformitet Inferred relationship Some
    Deformity of humerus Is a False Knogledeformitet Inferred relationship Some
    Deformity of radius Is a False Knogledeformitet Inferred relationship Some
    Deformity of ulna Is a False Knogledeformitet Inferred relationship Some
    Deformity of carpal bone Is a False Knogledeformitet Inferred relationship Some
    Deformity of metacarpal Is a False Knogledeformitet Inferred relationship Some
    Deformity of phalanx of finger or thumb Is a False Knogledeformitet Inferred relationship Some
    Deformity of femur Is a False Knogledeformitet Inferred relationship Some
    Deformity of patella Is a False Knogledeformitet Inferred relationship Some
    Deformity of tibia Is a False Knogledeformitet Inferred relationship Some
    Deformity of fibula Is a False Knogledeformitet Inferred relationship Some
    Deformity of calcaneum Is a False Knogledeformitet Inferred relationship Some
    Deformity of talus Is a False Knogledeformitet Inferred relationship Some
    Deformity of metatarsal Is a False Knogledeformitet Inferred relationship Some
    Deformity of phalanx of toe Is a False Knogledeformitet Inferred relationship Some
    Anden knogledeformitet Is a False Knogledeformitet Inferred relationship Some
    Deformitet af anden tarsalknogle Is a False Knogledeformitet Inferred relationship Some
    Deformity of scapula (disorder) Is a False Knogledeformitet Inferred relationship Some
    Transversel ameli af arm på underarmsniveau Is a False Knogledeformitet Inferred relationship Some
    Transverse deficiency lower limb - through tibia/fibula Is a False Knogledeformitet Inferred relationship Some
    Acquired myelocele Is a False Knogledeformitet Inferred relationship Some
    Deformity of shaft of clavicle Is a False Knogledeformitet Inferred relationship Some
    Deformity of cervical vertebra Is a False Knogledeformitet Inferred relationship Some
    Deformity of thoracic vertebra Is a False Knogledeformitet Inferred relationship Some
    Deformity of sternum (disorder) Is a False Knogledeformitet Inferred relationship Some
    Deformity of rib Is a False Knogledeformitet Inferred relationship Some
    Deformity of bone in foot Is a False Knogledeformitet Inferred relationship Some
    Pelvis obtecta Is a False Knogledeformitet Inferred relationship Some
    Overdevelopment of nasal bones (disorder) Is a False Knogledeformitet Inferred relationship Some
    Kyphoscoliorachitic pelvis Is a False Knogledeformitet Inferred relationship Some
    koksartrolistetisk bækken Is a False Knogledeformitet Inferred relationship Some
    Kyphotic pelvis Is a False Knogledeformitet Inferred relationship Some
    Orbital deformity due to bone disease Is a False Knogledeformitet Inferred relationship Some
    Congenital deformity of wall of nasal sinus Is a False Knogledeformitet Inferred relationship Some
    Kyphoscoliotic pelvis Is a False Knogledeformitet Inferred relationship Some
    Pelvic obliquity Is a False Knogledeformitet Inferred relationship Some
    Brachyphalangia Is a False Knogledeformitet Inferred relationship Some
    Osteomalacia of pelvis (disorder) Is a False Knogledeformitet Inferred relationship Some
    Pseudoosteomalacic pelvis Is a False Knogledeformitet Inferred relationship Some
    Lordotic pelvis Is a False Knogledeformitet Inferred relationship Some
    Scoliotic pelvis Is a False Knogledeformitet Inferred relationship Some
    Coxalgic pelvis Is a False Knogledeformitet Inferred relationship Some
    Rhizomelic chondrodysplasia punctata syndrome Is a False Knogledeformitet Inferred relationship Some
    Curvature of spine Is a False Knogledeformitet Inferred relationship Some
    Vitamin D-dependent rickets, type 1 Is a False Knogledeformitet Inferred relationship Some
    Acquired deformity of rib Is a False Knogledeformitet Inferred relationship Some
    Kyphorachitic pelvis Is a False Knogledeformitet Inferred relationship Some
    Long narrow head Is a False Knogledeformitet Inferred relationship Some
    Vitamin D-dependent rickets, type 2 Is a False Knogledeformitet Inferred relationship Some
    A rare skeletal dysplasia with characteristics of peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible individuals with a male karyotype. The disorder is autosomal dominant; however, most cases are due to heterozygous de novo mutations in the SOX9 gene (localized to 17q24). In rare individuals the disorder is caused by chromosomal recombination (deletion or translocation) involving the region 17q24. Is a False Knogledeformitet Inferred relationship Some
    Spondylolisthetic pelvis Is a False Knogledeformitet Inferred relationship Some
    Congenital deformity of clavicle Is a False Knogledeformitet Inferred relationship Some
    deformitet af pelvis Is a False Knogledeformitet Inferred relationship Some
    Congenital bowing of tibia and/or fibula (disorder) Is a False Knogledeformitet Inferred relationship Some
    Congenital bent hyoid bone Is a False Knogledeformitet Inferred relationship Some
    Congenital bent rib Is a False Knogledeformitet Inferred relationship Some
    Pelvis spinosa Is a False Knogledeformitet Inferred relationship Some
    Erhvervet underarmsdeformitet, eksklusiv fingrene Is a False Knogledeformitet Inferred relationship Some
    Erhvervet underarmsdeformitet, uspecificeret Is a False Knogledeformitet Inferred relationship Some
    Erhvervet underarmsdeformitet, ikke nærmere specificeret Is a False Knogledeformitet Inferred relationship Some
    Kyphosis deformity of spine (disorder) Is a False Knogledeformitet Inferred relationship Some
    Congenital scoliosis due to bony malformation Is a False Knogledeformitet Inferred relationship Some
    Lordosis and scoliosis deformity of spine Is a False Knogledeformitet Inferred relationship Some
    Postural plagiocephaly Is a False Knogledeformitet Inferred relationship Some
    Deformity of nasal sinus wall Is a False Knogledeformitet Inferred relationship Some
    Rhizomelic chondrodysplasia punctata syndrome Is a False Knogledeformitet Inferred relationship Some
    Deformity of bone of face (disorder) Is a False Knogledeformitet Inferred relationship Some
    Platybasia Is a False Knogledeformitet Inferred relationship Some
    Basilar skull invagination (disorder) Is a False Knogledeformitet Inferred relationship Some
    Schistosomus reflexus Is a False Knogledeformitet Inferred relationship Some
    Congenital kyphoscoliosis (disorder) Is a False Knogledeformitet Inferred relationship Some
    Congenital depression in skull Is a False Knogledeformitet Inferred relationship Some
    Skull congenital deformities Is a False Knogledeformitet Inferred relationship Some
    Longitudinal deficiency of tibia AND/OR fibula Is a False Knogledeformitet Inferred relationship Some
    Plagiocephaly Is a False Knogledeformitet Inferred relationship Some
    Brachycephaly Is a False Knogledeformitet Inferred relationship Some
    Congenital leg bone bowing Is a False Knogledeformitet Inferred relationship Some
    Acquired deformity of maxillofacial bone (disorder) Is a False Knogledeformitet Inferred relationship Some
    Congenital varus ankle Is a False Knogledeformitet Inferred relationship Some
    Congenital valgus ankle Is a False Knogledeformitet Inferred relationship Some
    Congenital bowing of long bone (disorder) Is a False Knogledeformitet Inferred relationship Some
    Longitudinal deficiency of femur Is a False Knogledeformitet Inferred relationship Some
    A rare, congenital limb malformation characterized by shortened or underdeveloped middle phalanges of all digits, that are sometimes fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are also shortened. Short stature in adulthood has been reported in association. Is a False Knogledeformitet Inferred relationship Some
    Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. Is a False Knogledeformitet Inferred relationship Some
    Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait. Is a False Knogledeformitet Inferred relationship Some
    Bone widening at ends Is a False Knogledeformitet Inferred relationship Some
    Cephalhematoma deformans of Schuller (disorder) Is a False Knogledeformitet Inferred relationship Some
    Dolichocephalic dwarfism Is a False Knogledeformitet Inferred relationship Some
    Deformity of bony orbit Is a False Knogledeformitet Inferred relationship Some
    Genu recurvatum and long leg bone bowing Is a False Knogledeformitet Inferred relationship Some
    Bilateral congenital retroversion of femurs Is a False Knogledeformitet Inferred relationship Some
    Congenital bowing of femur Is a False Knogledeformitet Inferred relationship Some
    Congenital anteversion of femur Is a False Knogledeformitet Inferred relationship Some
    A rare genetic primary bone dysplasia disorder with characteristics of short stature, hyperlordosis, protuberant abdomen, mild bilateral genu varum, bowed and shortened forearms with limited elbow extension and discrete facial dysmorphism (prominent forehead, hypertelorism, flat nasal bridge). Radiographically moderate platyspondyly, including posterior wedging with anterior bullet-shaped vertebral bodies, with minimal metaphyseal abnormalities are observed. Is a False Knogledeformitet Inferred relationship Some
    Saber shin Is a False Knogledeformitet Inferred relationship Some
    Acquired deformity of mandible Is a False Knogledeformitet 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 Knogledeformitet Inferred relationship Some
    Congenital contracted pelvis Is a False Knogledeformitet Inferred relationship Some
    Infantile pelvis Is a False Knogledeformitet Inferred relationship Some

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