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8447006: Congenital anomaly of skeletal bone (disorder)

Status: current, 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
14942016 Congenital anomaly of skeletal bone en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
14945019 Congenital skeletal anomaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
14946018 Anomaly of skeletal development en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
826321016 Congenital anomaly of skeletal bone (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3006510017 Congenital malformation of skeletal bone en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
355741000195115 anomalia scheletrica congenita it Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
355751000195117 anomalia ossea congenita it Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4416831000241116 anomalie congénitale d'un os fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
11451001000113 Angeborene Skelettanomalie de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
11461001000110 Angeborene Knochenanomalie de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2148 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of skeletal bone Is a Congenital anomaly of musculoskeletal system true Inferred relationship Some
Congenital anomaly of skeletal bone Occurrence Congenital false Inferred relationship Some
Congenital anomaly of skeletal bone Finding site Bone structure false Inferred relationship Some 1
Congenital anomaly of skeletal bone Is a Disorder of bone (disorder) false Inferred relationship Some
Congenital anomaly of skeletal bone Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of skeletal bone Is a Congenital connective tissue disorder false Inferred relationship Some
Congenital anomaly of skeletal bone Is a Disorder of bone development (disorder) true Inferred relationship Some
Congenital anomaly of skeletal bone Finding site Bone structure false Inferred relationship Some 1
Congenital anomaly of skeletal bone Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of skeletal bone Occurrence Congenital false Inferred relationship Some 2
Congenital anomaly of skeletal bone Associated morphology anomalie du développement false Inferred relationship Some 2
Congenital anomaly of skeletal bone Finding site Bone structure false Inferred relationship Some 2
Congenital anomaly of skeletal bone Occurrence Congenital true Inferred relationship Some 1
Congenital anomaly of skeletal bone Finding site Bone structure true Inferred relationship Some 1
Congenital anomaly of skeletal bone Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Congenital anomaly of skeletal bone Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital skeletal dysplasia (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Osseous syndactyly of toes first web space Is a False Congenital anomaly of skeletal bone Inferred relationship Some
anomalie transverse du bras au niveau de l'avant-bras Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Transverse arrest carpal level Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Transverse deficiency lower limb - through tibia/fibula Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Agenesis of tarsals and metatarsals Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Duplication of humerus Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Duplication of radius Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Brachydactyly of toes Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Failure of differentiation of bones of lower limb (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Duplication of lower limb bone Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Phalanx of supernumerary digit of hand Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Phalanx of supernumerary digit of foot Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Partially impacted tooth in bone Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Buccal bifurcation cyst Is a False Congenital anomaly of skeletal bone Inferred relationship Some
A rare hyaline fibromatosis syndrome with characteristics of papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occurring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Giant cell fibroblastoma of skin (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Aggressive infantile fibromatosis Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Juvenile elastofibromatosis (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Conjoined twins causing disproportion Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Failure of differentiation of bones of forearm Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital leg bone bowing Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Simple syndactyly of toes second to fourth web Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Osseous syndactyly of toes second to fourth web Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Infantile myofibromatosis Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of scapula Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of humerus Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of radius Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of ulna (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of femur Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of fibula Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of tibia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of tarsal bone Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of metatarsal bone Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of carpal bone (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of metacarpal bone Is a True Congenital anomaly of skeletal bone Inferred relationship Some
anomalie longitudinale d'un metatarsien Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital absence of skeletal bone Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Longitudinal deficiency of humerus Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Osteopetrosis Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital pes planus Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Glucoaminophosphaturia syndrome with rickets Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Xiphopagus (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Some
hydroméningocèle Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Syndactyly of fingers with fusion of bones Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital syphilitic periostitis Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Klippel's disease Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Longitudinal deficiency of tarsal bone Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Hanhart's syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Morquio syndrome Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Brachyphalangia Is a False Congenital anomaly of skeletal bone Inferred relationship Some
maladie de Hand-Schüller-Christian Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Papillon-Lefèvre syndrome Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Ectromelia Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Longitudinal deficiency of ulna Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of skull Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital hip dysplasia Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Gingival odontogenic cyst Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital syphilitic osteochondritis Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Jarcho-Levin syndrome Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Acephalocheiria Is a False Congenital anomaly of skeletal bone Inferred relationship Some
épiphysite syphilitique congénitale Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Xeroderma, talipes and enamel defect syndrome (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Cutis laxa with osteodystrophy Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of spine Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of ossicles of ear Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Acephalorhachia Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital deformity of clavicle Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Bifid patella Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Rudimentary patella Is a False Congenital anomaly of skeletal bone Inferred relationship Some
A rare genetic mandibulofacial dysostosis characterized by bilateral symmetrical oto-mandibular dysplasia including underdeveloped cheekbones (malar hypoplasia), a very small low jaw (micrognathia) and downward-slanting palpebral fissures, coloboma of the lower eyelids, microtia, hearing loss and without abnormalities of the extremities. Intelligence is normal. Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of thoracic cage Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Pachydermoperiostosis (PDP) is a form of primary hypertrophic osteoarthropathy, a rare hereditary disorder, and is characterised by digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhoea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a forme fruste with prominent pachydermia and minimal-to-absent skeletal changes. Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital absence of forepaw phalanx Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital absence of hindpaw phalanx Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital absence of tympanic anulus Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital abnormal fusion of forepaw phalanx Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital abnormal fusion of hindpaw phalanx Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital abnormal fusion of tympanic anulus Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital abnormal shape of forepaw phalanx Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital abnormal shape of hindpaw phalanx Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital abnormal shape of tympanic anulus Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital bent humerus Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital bent radius Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital bent ulna Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of pelvic bones Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Lack of ossification of forepaw phalanx Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Lack of ossification of hindpaw phalanx Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Lack of ossification of tympanic anulus Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital hypoplasia of calcaneus Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital hypoplasia of forepaw phalanx Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital hypoplasia of hindpaw phalanx Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital hypoplasia of tympanic anulus Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital malposition of forepaw phalanx Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital malposition of hindpaw phalanx Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital thickening of forepaw phalanx Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital thickening of hindpaw phalanx Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Incomplete ossification of forepaw phalanx Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Incomplete ossification of hindpaw phalanx Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Incomplete ossification of tympanic anulus Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Supernumerary forepaw phalanx Is a False Congenital anomaly of skeletal bone Inferred relationship Some

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