95463009: Congenital anomaly of joint (disorder)

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

\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Congenital anomaly of joint
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint

\Disease\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint

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 joint	Is a	Congenital anomaly of musculoskeletal system	true	Inferred relationship	Some
Congenital anomaly of joint	Is a	Arthropathy	false	Inferred relationship	Some
Congenital anomaly of joint	Occurrence	Congenital	false	Inferred relationship	Some
Congenital anomaly of joint	Finding site	Joint structure	true	Inferred relationship	Some	1
Congenital anomaly of joint	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital anomaly of joint	Is a	Arthropathy (disorder)	true	Inferred relationship	Some
Congenital anomaly of joint	Is a	Lesion of joint	false	Inferred relationship	Some
Congenital anomaly of joint	Finding site	Joint structure	false	Inferred relationship	Some	1
Congenital anomaly of joint	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital anomaly of joint	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital anomaly of joint	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Congenital anomaly of joint	Finding site	Joint structure	false	Inferred relationship	Some	2
Congenital anomaly of joint	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital anomaly of joint	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Congenital anomaly of joint	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital subluxation of carpus	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
Congenital crossed toes	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Congenital dislocation of joint (disorder)	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Congenital ankylosis of incudomallear articulation (disorder)	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Congenital claw toe	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
A rare genetic disease characterized by congenital contractures of the distal interphalangeal joints, progressive stiffness of the shoulders and neck, keloid scarring, increased optic cup-to-disc ratio, and renal stones. Additional reported features include arthritis, osteoporosis, hypoplastic flexion creases, clinodactyly, anxiety, and facial dysmorphism (such as sloping forehead, prominent supraorbital ridges, downslanting palpebral fissures, prominent ears, and high arched palate). Female carriers exhibit a variable, milder phenotype.	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Occipital encephalocele	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of Pierre Robin Sequence (congenital micrognathia and glossoptosis with airway obstruction and a U-shaped cleft of the soft palate) with joint contractures and developmental delay. Additional variable manifestations include talipes equinovarus, arachnodactyly, radioulnar synostosis, severe hip dysplasia, cardiac anomalies, facial dysmorphism such as crumpled ear helices, and ocular abnormalities, among others.	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Hypoplasia of cementum	Is a	False	Congenital anomaly of joint	Inferred relationship	Some
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by severe congenital contractures of the limbs and face, hypotonia, neonatal respiratory distress, and global developmental delay. Dysmorphic facial features include downslanting palpebral fissures, broad nasal bridge, large nares, long philtrum, and deep nasolabial folds, among others. Limb deformities (camptodactyly, clubfoot), short neck, scoliosis, as well as seizures have also been reported. Brain MRI may show cerebral and cerebellar atrophy in some cases.	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Congenital discoid meniscus of knee (disorder)	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Congenital dysplasia of joint of knee (disorder)	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Congenital dysplasia of joint of shoulder region	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Congenital dysplasia of joint of foot	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Congenital dysplasia of ankle joint (disorder)	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
A rare multiple congenital anomalies/dysmorphic syndrome characterised by severe brain malformations associated with cerebral parenchymal underdevelopment, arthrogryposis and club feet due to mutations in KIAA1109 gene. Majority of the cases are early lethal. Milder cases may present with severe global developmental delay, intellectual disability, microcephaly, hydrocephaly, heart defects, renal problems, severe muscle hypotonia causing incapacity to stand without a support, epilepsy, syndactyly and variable dysmorphic facial features (including hypotelorism, hypertelorism, small eyes, low-set and posteriorly rotated ears, short nose, flattened nasal bridge, anteverted nares, retrognathia).	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Congenital ankylosis of metacarpophalangeal joint of little finger (disorder)	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Congenital ankylosis of metatarsophalangeal joint of fourth toe	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Congenital ankylosis of metatarsophalangeal joint of second toe	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Congenital ankylosis of metatarsophalangeal joint of third toe	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Congenital ankylosis of metatarsophalangeal joint of fifth toe (disorder)	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Congenital ankylosis of metacarpophalangeal joint of index finger	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Congenital ankylosis of metacarpophalangeal joint of middle finger (disorder)	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Congenital ankylosis of metacarpophalangeal joint of ring finger	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Congenital synostosis of metacarpal bone with proximal phalanx of hand	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Congenital synostosis of proximal phalanx of great toe with first metatarsal bone (disorder)	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Congenital synostosis of tarsal and metatarsal bone (disorder)	Is a	True	Congenital anomaly of joint	Inferred relationship	Some
Congenital hypoplasia of facet joint of cervical spine (disorder)	Is a	True	Congenital anomaly of joint	Inferred relationship	Some

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Reference Sets

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Id	Description	Lang	Type	Status	Case?	Module
158122016	Congenital anomaly of joint	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
158126018	Congenital joint malformation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
158127010	Congenital articular malformation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
839622014	Congenital anomaly of joint (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4730411000241112	anomalie congénitale d'une articulation	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module