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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
14942016 Congenital anomaly of skeletal bone en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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 Only initial character 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 Only initial character 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
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
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
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
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
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

1821 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 Existential restriction modifier (core metadata concept)
Congenital anomaly of skeletal bone Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of skeletal bone Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skeletal bone Is a Disorder of bone (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of skeletal bone Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skeletal bone Is a Congenital connective tissue disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of skeletal bone Is a Disorder of bone development true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of skeletal bone Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skeletal bone Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skeletal bone Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of skeletal bone Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of skeletal bone Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of skeletal bone Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skeletal bone Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skeletal bone Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skeletal bone Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Skeletal dysplasia Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Osseous syndactyly of toes first web space Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
anomalie transverse du bras au niveau de l'avant-bras Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Transverse arrest carpal level Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Transverse deficiency lower limb - through tibia/fibula Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Agenesis of tarsals and metatarsals Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Duplication of humerus Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Duplication of radius Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly of toes Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Failure of differentiation of bones of lower limb Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Duplication of lower limb bone Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Phalanx of supernumerary digit of hand Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Phalanx of supernumerary digit of foot Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Partially impacted tooth in bone Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Buccal bifurcation cyst Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Juvenile hyaline fibromatosis (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Giant cell fibroblastoma Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Aggressive infantile fibromatosis Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Juvenile elastofibromatosis Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Conjoined twins causing disproportion Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Failure of differentiation of bones of forearm (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital leg bone bowing (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Simple syndactyly of toes second to fourth web Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Osseous syndactyly of toes second to fourth web Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Infantile myofibromatosis Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of scapula Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of humerus (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of radius Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of ulna (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of femur (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of fibula Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of tibia Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of tarsal bone Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of metatarsal bone Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of carpal bone Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of metacarpal bone (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
anomalie longitudinale d'un metatarsien Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of skeletal bone Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Longitudinal deficiency of humerus Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Osteopetrosis (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital pes planus Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Glucoaminophosphaturia syndrome with rickets Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Xiphopagus Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
hydroméningocèle Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Syndactyly of fingers with fusion of bones Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital syphilitic periostitis Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Klippel's disease Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Longitudinal deficiency of tarsal bone Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Hanhart's syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Morquio syndrome (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Brachyphalangia Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
maladie de Hand-Schüller-Christian Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Papillon-Lefèvre syndrome Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Ectromelia Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Longitudinal deficiency of ulna Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of skull Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hip dysplasia (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Gingival odontogenic cyst (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital syphilitic osteochondritis (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Jarcho-Levin syndrome Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Acephalocheiria Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
épiphysite syphilitique congénitale Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
XTE syndrome Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Cutis laxa with osteodystrophy Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of spine Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of ossicles of ear Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Acephalorhachia Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of clavicle Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Bifid patella Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Rudimentary patella Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
A congenital disorder of craniofacial development with characteristics of bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects. The syndrome is caused by mutations in the TCOF1 gene (5q32) encoding the nucleolar phosphoprotein Treacle or in the POLR1C (6p21.1) or POLR1D (13q12.2) genes, coding for RNA polymerase I and III subunits. Transmission is autosomal dominant with 90% penetrance and variable expressivity, even among affected patients within the same family. Mutations in POLR1C gene are inherited in autosomal recessive manner. Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of thoracic cage (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Pachydermoperiostosis syndrome (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of forepaw phalanx Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of hindpaw phalanx Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of tympanic anulus (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormal fusion of forepaw phalanx Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormal fusion of hindpaw phalanx Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormal fusion of tympanic anulus Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormal shape of forepaw phalanx Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormal shape of hindpaw phalanx Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormal shape of tympanic anulus (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital bent humerus Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital bent radius (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital bent ulna (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of pelvic bones Is a True Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Lack of ossification of forepaw phalanx Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Lack of ossification of hindpaw phalanx Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Lack of ossification of tympanic anulus Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hypoplasia of calcaneus Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hypoplasia of forepaw phalanx Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hypoplasia of hindpaw phalanx Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hypoplasia of tympanic anulus (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malposition of forepaw phalanx Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malposition of hindpaw phalanx Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital thickening of forepaw phalanx Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Congenital thickening of hindpaw phalanx Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Incomplete ossification of forepaw phalanx Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Incomplete ossification of hindpaw phalanx Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Incomplete ossification of tympanic anulus Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)
Supernumerary forepaw phalanx Is a False Congenital anomaly of skeletal bone Inferred relationship Existential restriction modifier (core metadata concept)

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