FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

8447006: Congenital anomaly of skeletal bone (disorder)

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

Descriptions:

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
355741000195115 anomalia scheletrica congenita it Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
355751000195117 anomalia ossea congenita it Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4416831000241116 anomalie congénitale d'un os fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
11451001000113 Angeborene Skelettanomalie de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
11461001000110 Angeborene Knochenanomalie de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2148 descendants. Search Descendants:

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 anomalie congénitale 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 anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of skeletal bone Occurrence Congenital false Inferred relationship Some 2
Congenital anomaly of skeletal bone Associated morphology anomalie du développement 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
Chondrodysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
A rare, genetic dysostosis malformation syndrome characterized by skeletal dysplasia (rabbit ear-shaped iliac alae, delayed bone age, abnormalities of the vertebral bodies and schisis of the vertebral arches), seizures, short stature, cerebral atrophy and moderate to severe intellectual disability. Additional variable manifestations include corneal and retinal abnormalities, cataract, prognathism, dental malocclusion, brachydactyly, clinodactyly, slight generalized hypotonia and hyper extensible joints. Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Familial expansile osteolysis Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Bent bone dysplasia group Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Craniodiaphyseal dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested. Is a True Congenital anomaly of skeletal bone Inferred relationship Some
A rare genetic disease characterized by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical, generalized metaphyseal enchondromas, particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign. Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Melorheostosis Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Sterile multifocal osteomyelitis with periostitis and pustulosis is a rare, severe, genetic autoinflammatory syndrome characterized by usually neonatal onset of generalized neutrophilic cutaneous pustulosis and severe, recurrent, multifocal, aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features. Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Chondroectodermal dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Holoprosencephaly-caudal dysgenesis syndrome is a central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia). Is a False Congenital anomaly of skeletal bone Inferred relationship Some
A rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested. Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Metaphyseal chondrodysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Kniest-Stickler dysplasia group Is a False Congenital anomaly of skeletal bone Inferred relationship Some
A rare primary bone dysplasia characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay. Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Leri's pleonosteosis syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, microcephaly, delayed bone maturation, and skeletal abnormalities (such as scoliosis or pectus excavatum, among others). Dysmorphic features include coarse face, hirsutism, thick eyebrows, broad nasal septum, short philtrum, large mouth, and prominent ears. There have been no further descriptions in the literature since 1996. Is a True Congenital anomaly of skeletal bone Inferred relationship Some
A very rare syndrome characterized by progressive loss of bone, usually the carpal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities. Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Camurati-Engelmann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterised by 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. Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Greig cephalopolysyndactyly syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Idiopathic multicentric osteolysis Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Osteosclerosis - Stanescu type Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Craniometaphyseal dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Osteopoikilosis Is a True Congenital anomaly of skeletal bone Inferred relationship Some
syndrome de nanisme ostéochondrodysplasique-surdité-rétinopathie pigmentaire Is a False Congenital anomaly of skeletal bone 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 anomaly of skeletal bone Inferred relationship Some
Achondrogenesis, type IA Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Dysosteosclerosis Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986. Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Epiphyseal dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Hypochondroplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
A rare primary bone dysplasia characterized by severe intrauterine and postnatal growth retardation and short stature in association with craniofacial dysmorphism (such as large forehead, triangular face, low-set ears, and micro-retrognathism) and osteochondrodysplastic lesions. Radiographic findings include epiphyseal maturation delay, abnormal metaphyses, a narrow thorax, small pelvis, and short and broad metacarpal bones and phalanges. There have been no further descriptions in the literature since 1996. Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Defects of the tubular (and flat) bones and/or axial skeleton Is a True Congenital anomaly of skeletal bone Inferred relationship Some
dysplasie spondylo-épimétaphysaire avec hyperlaxité ligamentaire Is a False Congenital anomaly of skeletal bone Inferred relationship Some
syndrome de dyschondrostéose - néphropathie Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. Is a False Congenital anomaly of skeletal bone Inferred relationship Some
A rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981. Is a True Congenital anomaly of skeletal bone Inferred relationship Some
A Pierre Robin syndrome associated with bone disease characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings. Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Boomerang dysplasia Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia. Is a True Congenital anomaly of skeletal bone Inferred relationship Some
A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings. Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Osteogenesis imperfecta Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Desbuquois syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Nievergelt's syndrome Is a False Congenital anomaly of skeletal bone Inferred relationship Some
A rare developmental defect with connective tissue involvement characterized by multiple joint dislocations, flattened facial appearance, abnormal palmar creases, laryngotracheomalacia, and pulmonary hypoplasia. Additional signs may include a bifid tongue, micrognathia, non-immune hydrops fetalis, and brain dysplasia. The disease is lethal shortly after birth due to respiratory insufficiency. Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present. Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988. Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Leri-Weill dyschondrosteosis Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia. Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Langer mesomelic dysplasia syndrome Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Pseudodiastrophic dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age but may develop later in life or never. Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse). Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Diastrophic dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies. Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported. Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Hypoplastic chondrodystrophy Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur. Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterized by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive. Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly. Prevalence is estimated at less than one in one million people. Intelligence is usually normal. The syndrome is caused by a mutation in the TRPV4 gene (12q24.1) and is transmitted in an autosomal dominant manner. Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, small pelvis, progressive kyphoscoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet. Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaphyseal dysplasia and severe intellectual deficit. Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests and marked sclerosis of the skull base. Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Spondylometaphyseal dysplasia, A4 type is a rare primary bone dysplasia disorder characterized by disproportionate short stature, severe femoral neck deformity, marked metaphyseal abnormalities and platyspondyly consisting of ovoid vertebral bodies that have an anterior tongue-like deformity. Is a True Congenital anomaly of skeletal bone Inferred relationship Some
A rare, primary bone dysplasia characterized by intrauterine growth retardation, pre- and postnatal disproportionate short stature with short, rhizomelic limbs, facial dysmorphism, a short neck and small thorax. Hypotonia, cardiomegaly and global developmental delay have also been associated. Several radiographic findings have been reported, including ribs with cupped ends, platyspondyly, square iliac bones, horizontal and trident acetabula, hypoplastic ischia, and delayed epiphyseal ossification. Is a False Congenital anomaly of skeletal bone Inferred relationship Some
A rare, genetic, primary bone dysplasia disorder characterized by short stature, hyperlordosis, protuberant abdomen, mild bilateral genu varum, bowed and shortened forearms with limited elbow extension, and discrete facial dysmorphism (prominent forehead, hypertelorism, flat nasal bridge). Radiographically, moderate platyspondyly, including posterior wedging with anterior bullet-shaped vertebral bodies, with minimal metaphyseal abnormalities are observed. Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Spondylometaphyseal dysplasia - Sutcliffe type Is a True Congenital anomaly of skeletal bone Inferred relationship Some
dysplasie spondylo-métaphysaire de type Czarny-Ratajczak Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Axial spondylometaphyseal dysplasia is a rare type of spondylometaphyseal dysplasia characterized by metaphyseal changes of the truncal-juxta truncal bones associated with retinal dystrophy. Patients typically present progressive postnatal growth failure with rhizomelic shortening of the limbs, a deformed, hypoplastic thorax and retinitis pigmentosa or pigmentary retinal degeneration. Radiographic findings include short ribs with flared, cupped anterior ends, mild platyspondyly, lacy ilia and metaphyseal dysplasia of the proximal femora. Is a False Congenital anomaly of skeletal bone Inferred relationship Some
A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterised by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterised in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects. Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital spondylolisthesis Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Fibrous dysplasia of bone Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Atelosteogenesis type 2 Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Brachyrachia (short spine dysplasia) Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Saldino-Mainzer dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Francois syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Neonatal osteosclerotic dysplasia (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder with characteristics of abnormal bone proliferation and osteochondromas in the upper and lower limbs. Is a True Congenital anomaly of skeletal bone Inferred relationship Some
hydromyélocèle Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Seckel syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Cutis laxa, x-linked Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Lipomyelomeningocele Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital coronal cleft of vertebra (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
An extremely rare type of severe combined immunodeficiency (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity. Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Lethal Kniest-like syndrome Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Kniest dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Kniest-Stickler dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital anomaly of patella (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
A congenital malformation of the digits characterised by various degree of shortening of the distal phalanx of the thumb, either unilaterally or bilaterally. Great toes may be similarly affected. Inherited as an autosomal dominant trait. Is a False Congenital anomaly of skeletal bone Inferred relationship Some
A congenital malformation characterised by shortening of the middle phalanx of the fifth finger. Inherited as an autosomal dominant trait. Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Pygopagus Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital dysplasia of bone caused by drug Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital sagittal cleft of vertebra (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Multiple congenital defects of vertebral segmentation Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Mesomelic dysplasia of upper limb (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Osteoglophonic dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Supernumerary bone of foot (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
A rare disorder characterised by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anaemia. The exact prevalence is unknown. Associated with mutations in the TBXAS1 gene (which encodes thromboxane synthase). Transmitted as an autosomal recessive trait. Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital deformity of bone of forearm (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
A rare genetic motor neuron disease characterized by decreased or absent fetal movements, congenital proximal and distal joint contractures (consistent with arthrogryposis multiplex congenita), and multiple congenital fractures of the long bones. Further manifestations are neonatal respiratory distress, severe muscular hypotonia, areflexia, dysphagia, congenital heart defects, and dysmorphic facial features. Muscle biopsy shows increased fiber-size variation and grouping of larger type I fibers. The disease is usually fatal in infancy due to respiratory failure. Is a True Congenital anomaly of skeletal bone Inferred relationship Some

Start Previous Page 4 of 5 End

This concept is not in any reference sets

Back to Start