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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


158 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 Some
Congenital dysplasia of limb (disorder) Occurrence Congenital true Inferred relationship Some 1
Congenital dysplasia of limb (disorder) Finding site Limb structure true Inferred relationship Some 1
Congenital dysplasia of limb (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Congenital dysplasia of limb (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Baller-Gerold syndrome Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
Acrodysostosis Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
Brachydactyly syndrome type E Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
Madelung's deformity (disorder) Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
Mesomelic dysplasia Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
Oculodento-osseous dysplasia Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
Congenital hip dysplasia Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
Congenital glenoid dysplasia Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterised by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992. Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993. Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
Ectrodactyly-polydactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982. Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
Hallux varus-preaxial polysyndactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980. Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
A rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993. Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
A rare, genetic bone disorder characterized 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 Some
Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992. Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
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 Some
Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with active extension impossible) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported. Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones. Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia disorder, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities. Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities). Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly. Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
A rare, genetic, primary bone dysplasia disorder characterized by severe pre- and post-natal short stature, facial dysmorphism (including dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, brachydactyly and fifth-finger clinodactyly, as well as a high-pitched voice are also associated. Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
Patella dysplasia Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
A rare primary bone dysplasia characterized by the association of spondylometaphyseal dysplasia, generalized joint laxity, and dentinogenesis imperfecta. Main skeletal abnormalities comprise short stature, narrow chest, scoliosis, mesomelic limb shortening, and brachydactyly. Radiographic features include severe metaphyseal irregularities of the tubular bones, platyspondyly with coronal clefts, cone-shaped epiphyses of the hands, square iliac wings, and coxa valga. Additional extraskeletal manifestations like pulmonary hypoplasia, cystic renal disease, and non-obstructive hydrocephalus have also been reported. Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
A rare syndromic form of lissencephaly characterized by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. The syndrome may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and fetal akinesia sequence. Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis. Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
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 Some
A rare congenital malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism. Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
A rare congenital acrofacial dysostosis characterized by mild intrauterine growth retardation, postnatal short stature, microcephaly, intellectual disability, moderate mandibulofacial dysostosis (including dental anomalies and/or malpositioning, microretrognathia, and malar hypoplasia), and mild pre- and postaxial limb hypoplasia with generalized brachydactyly, mild interdigital webbing, single transverse palmar creases and clinodactyly. Reported facial features include high forehead, widow's peak, downslanted palpebral fissures, sparse lateral eyebrows, and small or dysplastic ears. Variably associated features include frequent caries, preauricular fistulae, inguinal hernia, spina bifida occulta, and cryptorchidism and hypospadias in males. Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
A rare acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beaked nose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype. Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
A rare acrofacial dysostosis characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997. Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
A rare, severe, multiple congenital anomalies syndrome characterized by severe mandibular hypoplasia, upper limb phocomelia with oligodactyly, absent fibula, and a number of additional skeletal (hypoplastic scapula and ischii, 11 ribs, clubfeet), facial (hypertelorism, hypoplastic supraorbital ridges, wide nasal bridge, microtia with low-set ears) and variable internal organ abnormalities (including arhinencephaly, hypolobulated lungs, and congenital cardiac defects), which usually lead to perinatal death. Surviving patients show features similar to Nagel syndrome. Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
A rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants. Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
A form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age. Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation). Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized 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 Some
A rare autosomal dominant form of heart-hand syndrome that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases. Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
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 Some
A primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develop in childhood and that progress to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing. Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies. Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
Intellectual disability-balding-patella luxation-acromicria syndrome is characterized by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males. Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss. Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
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 Some
Ballard syndrome has characteristics of hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals. In contrast to brachydactyly type E, patients with Ballard syndrome have normal stature. The syndrome has been described in 12 members from four generations of one family. Transmission appears to be autosomal dominant. Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
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 Some
A rare ectodermal dysplasia syndrome characterized by congenital onychodystrophy (particularly of the distal nail) and severe hypotrichosis with alopecia involving the eyebrows, eyelashes and body hair. Scalp, beard, pubic and axillary hair is brittle and shows a twisting pattern on electron microscopy. There have been no further descriptions in the literature since 1991. Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies. Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
Ulna metaphyseal dysplasia syndrome (disorder) Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis. Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
A rare syndromic genetic deafness characterized by profound congenital bilateral sensorineural deafness, developmental delay, moderate intellectual disability, generalized delay in bone maturation, short stature, epiphyseal dysplasia particularly of the capital femoral epiphyses, and mild dysmorphic facial features such as prominent forehead and small, pointed chin. Bilateral obstruction of lacrimal ducts and inguinal and umbilical hernias have also been described. Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
Developmental dislocation of ankle and/or foot (disorder) Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
luxation développementale d'une articulation de la région de l'épaule Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
Congenital onychodysplasia of index fingers (disorder) Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
Sugarman brachydactyly is a rare, genetic, congenital limb malformation characterized by brachydactyly of fingers, with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. There have been no further descriptions in the literature since 1982. Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
A rare genetic syndrome with limb malformations as a major feature characterized by preaxial polydactyly of the hands and feet with variable phenotypic expressivity in combination with hypertrichosis extending from the posterior hairline to the middle of the back. Reported limb malformations include triphalangeal thumbs, duplicated thumbs, preaxial extra ray, and syndactyly between digits I and II in the hands, and large or duplicated hallux and syndactyly between toes I and II in the feet. Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
Eye defects, arachnodactyly, cardiopathy syndrome Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
Melorheostosis of left foot (disorder) Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
Melorheostosis of left lower leg Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
Melorheostosis of right foot (disorder) Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
Melorheostosis of right lower leg (disorder) Is a False Congenital dysplasia of limb (disorder) Inferred relationship Some
Congenital dysplasia of right upper limb (disorder) Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
Congenital dysplasia of left upper limb (disorder) Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
Rhizomelic dysplasia is proximal shortening of the limb. In the upper limb this is shortening of the humerus and in the lower limb the femur. Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
A rare congenital limb malformation syndrome characterized by a highly variable combination of congenital anomalies of the femur, fibula, and/or ulna, which can appear along with finger/toe anomalies at the ulnar/fibular side. Limb defects are asymmetrical, with upper limbs more often affected than lower limbs, and the right side of the body more often affected than the left. Abnormalities of the upper limb include amelia, hypoplasia of the humerus, humero-radial synostosis, and malformation of the ulna and ulnar rays. Abnormalities of the lower limb include absence of the proximal part of the femur and absence of the fibula. Axial skeleton, internal organs and intellectual function are usually normal. Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
Congenital dysplasia of lower limb (disorder) Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
Melorheostosis of humerus (disorder) Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
Congenital dysplasia of joint of shoulder region Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
Melorheostosis of bone of hand (disorder) Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
Melorheostosis of bone of forearm Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
Melorheostosis of shoulder region (disorder) Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
A rare dysostosis with brachydactyly characterised by short digits predominantly on the preaxial (radial) side resulting in stub thumbs, short index fingers and a cutaneous web between the first and second fingers. No extraskeletal manifestations are present. Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
Congenital dysplasia of nail unit (disorder) Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some
Congenital dysplasia of radius (disorder) Is a True Congenital dysplasia of limb (disorder) Inferred relationship Some

This concept is not in any reference sets

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