8447006: Congenital anomaly of skeletal bone (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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	kongenit anomali	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	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of skeletal bone	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital anomaly of skeletal bone	Associated morphology	dysgenese	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
Skeletal dysplasia	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
Transversel ameli af arm på underarmsniveau	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
Agenesi af tarsalknogler og metatarsalknogler	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	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	Is a	False	Congenital anomaly of skeletal bone	Inferred relationship	Some
Sammenvoksede tvillinger, der forårsager mekanisk misforhold	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
Ossøs syndaktyli i tæer, 2. til 4. tåmellemrum	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	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 (disorder)	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	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
longitudinel ameli af metatarsalknogle	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
Glucoaminophosphaturi-syndrom med rakit	Is a	False	Congenital anomaly of skeletal bone	Inferred relationship	Some
Xiphopagus	Is a	False	Congenital anomaly of skeletal bone	Inferred relationship	Some
Hydromeningocele	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
Klippels sygdom	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	True	Congenital anomaly of skeletal bone	Inferred relationship	Some
Hand-Schüller-Christians sygdom	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
Kongenit syfilitisk epifysit	Is a	False	Congenital anomaly of skeletal bone	Inferred relationship	Some
XTE syndrome	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
kongenit manglende hoved og rygmarv	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
Rudimentær patella	Is a	False	Congenital anomaly of skeletal bone	Inferred relationship	Some
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	Some
Congenital anomaly of thoracic cage	Is a	False	Congenital anomaly of skeletal bone	Inferred relationship	Some
A form of primary hypertrophic osteoarthropathy, a rare hereditary disorder with characteristics of 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 frusta with prominent pachydermia and minimal-to-absent skeletal changes. The disease typically begins during childhood or adolescence and may stabilise after 5-20 years of progression, or progress constantly. Mutations in the HPGD gene (4q33-q34) have been identified. The gene encodes 15-hydroxyprostaglandin dehydrogenase (15-PGDH), the main enzyme of prostaglandin degradation. Inherited as an autosomal recessive trait.	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 (disorder)	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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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
2998461000005114	kongenit anomali i skeletknogle	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)