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88631000119105: Congenital dysplasia of limb (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Jun 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5247870012 Congenital dysplasia of limb (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5247871011 Congenital dysplasia of limb en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5247870012 Congenital dysplasia of limb (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5247871011 Congenital dysplasia of limb en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

147 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital dysplasia of limb (disorder) Is a Congenital anomaly of limb true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital dysplasia of limb (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital dysplasia of limb (disorder) Finding site Limb structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital dysplasia of limb (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital dysplasia of limb (disorder) 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
Baller-Gerold syndrome Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Acrodysostosis Is a False Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly syndrome type E Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Holt-Oram syndrome Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Madelung's deformity Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Mesomelic dysplasia Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Oculodento-osseous dysplasia Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hip dysplasia (disorder) Is a False Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital glenoid dysplasia Is a False Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Tetramelic monodactyly (disorder) Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Postaxial tetramelic oligodactyly Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ectrodactyly polydactyly syndrome (disorder) Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hallux varus, preaxial polysyndactyly syndrome (disorder) Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Absent radius, anogenital anomalies syndrome (disorder) Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare, genetic bone disorder characterised by the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling. Is a False Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Pectus excavatum, macrocephaly, dysplastic nails syndrome Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated. Is a False Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly elbow wrist dysplasia (disorder) Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Dyssegmental dysplasia Silverman Handmaker type (disorder) Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Carney complex, trismus, pseudocamptodactyly syndrome (disorder) Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Thrombocythemia with distal limb defect Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Patella dysplasia Is a False Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder) Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterised by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis. Is a False Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism. Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ulna fibula ray defect and brachydactyly syndrome (disorder) Is a False Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Acrofrontofacionasal dysostosis (disorder) Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Acrofacial dysostosis Catania type (disorder) Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Acrofacial dysostosis Kennedy Teebi type (disorder) Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Acrofacial dysostosis Palagonia type (disorder) Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Acrofacial dysostosis Rodriguez type (disorder) Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Brachymorphism with onychodysplasia and dysphalangism syndrome Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Angel-shaped phalangoepiphyseal dysplasia (disorder) Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Heart-hand syndrome type 2 (disorder) Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterised by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle. Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Heart-hand syndrome Slovenian type (disorder) Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterized by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance). Is a False Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hip dysplasia Beukes type (disorder) Is a False Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Acrofrontofacionasal dysostosis type 2 Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Scholte syndrome Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Oculootoradial syndrome (disorder) Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ballard syndrome (disorder) Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality. Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Pili torti onychodysplasia syndrome (disorder) Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Patterson Stevenson Fontaine syndrome (disorder) Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ulna metaphyseal dysplasia syndrome (disorder) Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Dysplasia of head of femur Meyer type (disorder) Is a False Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Deafness with epiphyseal dysplasia and short stature syndrome (disorder) Is a False Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Developmental dislocation of ankle and/or foot (disorder) Is a False Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
luxation développementale d'une articulation de la région de l'épaule Is a False Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital onychodysplasia of index fingers (disorder) Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Sugarman brachydactyly (disorder) Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder) Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Eye defects, arachnodactyly, cardiopathy syndrome Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Melorheostosis of left foot (disorder) Is a False Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Melorheostosis of left lower leg Is a False Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Melorheostosis of right foot (disorder) Is a False Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Melorheostosis of right lower leg (disorder) Is a False Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital dysplasia of right upper limb (disorder) Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital dysplasia of left upper limb (disorder) Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Rhizomelic dysplasia (disorder) Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Femur fibula ulna complex (disorder) Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital dysplasia of lower limb (disorder) Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Melorheostosis of humerus (disorder) Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital dysplasia of joint of shoulder region Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Melorheostosis of bone of hand (disorder) Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Melorheostosis of bone of forearm Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Melorheostosis of shoulder region (disorder) Is a True Congenital dysplasia of limb (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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