67988000: Congenital anomaly of cartilage (disorder)

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

\Musculoskeletal finding\Cartilage finding\Cartilage disorder\Congenital anomaly of cartilage
\Musculoskeletal finding\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Congenital anomaly of cartilage
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Cartilage disorder\Congenital anomaly of cartilage
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital connective tissue disorder\Congenital anomaly of cartilage
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage
\Disease\Disorder of body system\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Congenital anomaly of cartilage
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Cartilage disorder\Congenital anomaly of cartilage
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage
\Disease\Disorder of connective tissue (disorder)\Congenital connective tissue disorder\Congenital anomaly of cartilage
\Disease\Disorder of connective tissue (disorder)\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Congenital anomaly of cartilage
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage

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 cartilage	Is a	Disorder of soft tissue	false	Inferred relationship	Some
Congenital anomaly of cartilage	Is a	Congenital anomaly of musculoskeletal system	true	Inferred relationship	Some
Congenital anomaly of cartilage	Finding site	struktur af bruskvæv	false	Inferred relationship	Some	1
Congenital anomaly of cartilage	Occurrence	Congenital	false	Inferred relationship	Some
Congenital anomaly of cartilage	Is a	Disorder of connective tissue (disorder)	false	Inferred relationship	Some
Congenital anomaly of cartilage	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of cartilage	Finding site	Structure of musculoskeletal system (body structure)	false	Inferred relationship	Some
Congenital anomaly of cartilage	Is a	Congenital connective tissue disorder	true	Inferred relationship	Some
Congenital anomaly of cartilage	Is a	Cartilage disorder	true	Inferred relationship	Some
Congenital anomaly of cartilage	Finding site	Skeletal system structure	false	Inferred relationship	Some
Congenital anomaly of cartilage	Finding site	struktur af bruskvæv	false	Inferred relationship	Some	1
Congenital anomaly of cartilage	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of cartilage	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital anomaly of cartilage	Associated morphology	dysgenese	false	Inferred relationship	Some	2
Congenital anomaly of cartilage	Finding site	struktur af bruskvæv	false	Inferred relationship	Some	2
Congenital anomaly of cartilage	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital anomaly of cartilage	Finding site	Cartilage structure (body structure)	true	Inferred relationship	Some	1
Congenital anomaly of cartilage	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital anomaly of cartilage	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Buccal bifurcation cyst	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
Agenesis of nasal cartilages	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
Juvenile idiopathic generalized osteoporosis	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
Hypoplastic chondrodystrophy	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
Congenital anomaly of cricoid cartilage	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
Glucoaminophosphaturi-syndrom med rakit	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
Congenital syphilitic periostitis	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
Congenital anomaly of face bones	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
A rare clinically variable bone dysplasia syndrome with characteristics of hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. In more than 90% of patients, mutations in the transforming growth factor TGFB1 gene (19q13.1) are detected. Inherited as an autosomal dominant trait with reduced penetrance.	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
Morquio syndrome	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
Papillon-Lefèvre syndrome	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
Congenital anomaly of tracheal cartilage	Is a	True	Congenital anomaly of cartilage	Inferred relationship	Some
kerubisme	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
Gingival odontogenic cyst	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
Congenital syphilitic osteochondritis	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
Hyperphosphatasemia tarda	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
Median palatal cyst	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
Metaphyseal chondrodysplasia, McKusick type	Is a	True	Congenital anomaly of cartilage	Inferred relationship	Some
Congenital anomaly of thyroid cartilage	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
Familial x-linked hypophosphatemic vitamin D refractory rickets	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
Chondrodystrophia malacia	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
Hyperplastisk kondrodystrofi	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
Congenital cranial osteoporosis	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
Cleft cartilaginous centrum of cervical vertebra	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
Cleft cartilaginous centrum of lumbar vertebra	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
Cleft cartilaginous centrum of sacral vertebra	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
Congenital abnormal fusion of centrum cartilage of cervical vertebra	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
Congenital abnormal fusion of centrum cartilage of lumbar vertebra	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
Congenital abnormal fusion of centrum cartilage of sacral vertebra	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
Congenital anomaly of rib cartilage	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
Dumbbell-shaped cartilaginous centrum of cervical vertebra	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
Dumbbell-shaped cartilaginous centrum of lumbar vertebra	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
Dumbbell-shaped cartilaginous centrum of sacral vertebra	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
Dumbbell-shaped cartilaginous centrum of thoracic vertebra	Is a	True	Congenital anomaly of cartilage	Inferred relationship	Some
Unilateralt bruskcentrum i halshvirvel	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
Unilateralt bruskcentrum i lændehvirvel	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
Unilateralt bruskcentrum i sakralhvirvel	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
Congenital bronchomalacia	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
Congenital anomaly of jaw	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
Congenital cartilage anomaly of third eyelid	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
Autosomal dominant hypophosphatemic rickets	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
Congenital cleft thyroid cartilage	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
Congenital posterior cleft of cricoid cartilage	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
Congenital branched rib cartilage	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
Congenital anomaly of cricoid cartilage	Is a	True	Congenital anomaly of cartilage	Inferred relationship	Some
Congenital anomaly of tracheal cartilage	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
Congenital anomaly of thyroid cartilage	Is a	True	Congenital anomaly of cartilage	Inferred relationship	Some
Dumbbell-shaped cartilaginous centrum of cervical vertebra	Is a	True	Congenital anomaly of cartilage	Inferred relationship	Some
Dumbbell-shaped cartilaginous centrum of lumbar vertebra	Is a	True	Congenital anomaly of cartilage	Inferred relationship	Some
Dumbbell-shaped cartilaginous centrum of sacral vertebra	Is a	True	Congenital anomaly of cartilage	Inferred relationship	Some
Agenesis of nasal cartilages	Is a	True	Congenital anomaly of cartilage	Inferred relationship	Some
Congenital laryngomalacia (disorder)	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
Congenital anomaly of rib cartilage	Is a	True	Congenital anomaly of cartilage	Inferred relationship	Some
Dumbbell-shaped cartilaginous centrum of thoracic vertebra	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
Acquired cartilage anomaly of third eyelid	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
Congenital bronchomalacia	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
Kongenit diskoid menisk	Is a	False	Congenital anomaly of cartilage	Inferred relationship	Some
Congenital abnormal fusion of centrum cartilage of thoracic vertebra	Is a	True	Congenital anomaly of cartilage	Inferred relationship	Some
Congenital abnormal fusion of centrum cartilage of sacral vertebra	Is a	True	Congenital anomaly of cartilage	Inferred relationship	Some
Congenital abnormal fusion of centrum cartilage of lumbar vertebra	Is a	True	Congenital anomaly of cartilage	Inferred relationship	Some
Cleft cartilaginous centrum of thoracic vertebra	Is a	True	Congenital anomaly of cartilage	Inferred relationship	Some
Congenital bronchomalacia	Is a	True	Congenital anomaly of cartilage	Inferred relationship	Some
Cleft cartilaginous centrum of sacral vertebra	Is a	True	Congenital anomaly of cartilage	Inferred relationship	Some
Cleft cartilaginous centrum of lumbar vertebra	Is a	True	Congenital anomaly of cartilage	Inferred relationship	Some
Congenital laryngomalacia (disorder)	Is a	True	Congenital anomaly of cartilage	Inferred relationship	Some
A very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976.	Is a	True	Congenital anomaly of cartilage	Inferred relationship	Some
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	Is a	True	Congenital anomaly of cartilage	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (including larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (especially of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.	Is a	True	Congenital anomaly of cartilage	Inferred relationship	Some
Disorganised development of cartilaginous and fibrous components of the skeleton	Is a	True	Congenital anomaly of cartilage	Inferred relationship	Some
Congenital discoid meniscus of knee (disorder)	Is a	True	Congenital anomaly of cartilage	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
112934017	Congenital anomaly of cartilage	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
112938019	Chondrodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
112939010	Abnormal development of cartilage	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
807772012	Congenital anomaly of cartilage (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2997531000005119	kongenit bruskanomali	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)