105986008: Congenital skeletal dysplasia (disorder)

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

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\Disorder of skeletal system\Skeletal dysplasia

\Congenital anomaly of musculoskeletal system\Skeletal dysplasia

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia

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
Skeletal dysplasia	Is a	Disorder of skeletal system	true	Inferred relationship	Some
Skeletal dysplasia	Is a	Congenital anomaly of skeletal bone	false	Inferred relationship	Some
Skeletal dysplasia	Occurrence	Congenital	false	Inferred relationship	Some
Skeletal dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Skeletal dysplasia	Finding site	Bone structure	false	Inferred relationship	Some	1
Skeletal dysplasia	Finding site	Skeletal system structure	true	Inferred relationship	Some	1
Skeletal dysplasia	Associated morphology	kongenit dysplasi	false	Inferred relationship	Some	1
Skeletal dysplasia	Is a	Congenital malformation	false	Inferred relationship	Some
Skeletal dysplasia	Associated morphology	kongenit dysplasi	false	Inferred relationship	Some	1
Skeletal dysplasia	Finding site	Bone structure	false	Inferred relationship	Some	1
Skeletal dysplasia	Occurrence	Congenital	false	Inferred relationship	Some	2
Skeletal dysplasia	Finding site	Bone structure	false	Inferred relationship	Some	2
Skeletal dysplasia	Associated morphology	kongenit dysplasi	false	Inferred relationship	Some	2
Skeletal dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Skeletal dysplasia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Skeletal dysplasia	Is a	Congenital anomaly of musculoskeletal system	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A central nervous system malformation syndrome with characteristics of 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	Skeletal dysplasia	Inferred relationship	Some
A rare genetic bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated. There is evidence the disease can be caused by homozygous mutation in the CYP26B1 gene on chromosome 2p13.	Is a	True	Skeletal dysplasia	Inferred relationship	Some
A rare genetic primary bone dysplasia disorder with characteristics of 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. There is evidence the disease can be caused by homozygous mutation in the POC1A gene on chromosome 3p21.	Is a	True	Skeletal dysplasia	Inferred relationship	Some
A rare severe genetic autoinflammatory syndrome characterised by usually neonatal onset of generalised 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. Caused by homozygous mutation in the IL1RN gene on chromosome 2q14.	Is a	True	Skeletal dysplasia	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate and simple, dysplastic pinnae with preauricular pits/tags. Caused by homozygous mutation in the GSC gene on chromosome 14q32.	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Patella dysplasia	Is a	True	Skeletal dysplasia	Inferred relationship	Some
A rare genetic dysostosis disorder with characteristics of craniofacial bone abnormalities (for example midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982.	Is a	True	Skeletal dysplasia	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	Skeletal dysplasia	Inferred relationship	Some
Winchester syndrome	Is a	False	Skeletal dysplasia	Inferred relationship	Some
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome	Is a	False	Skeletal dysplasia	Inferred relationship	Some
Osteogenesis imperfecta	Is a	True	Skeletal dysplasia	Inferred relationship	Some
A heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life. Characteristics are platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions. The different forms of spondylometaphyseal dysplasia are distinguished by the localization and severity of involvement of the affected metaphyses.	Is a	True	Skeletal dysplasia	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	Skeletal dysplasia	Inferred relationship	Some
Developmental dislocation of ankle and/or foot (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
udviklingsrelateret luksation af led i skulderområde	Is a	False	Skeletal dysplasia	Inferred relationship	Some
Occipital dysplasia (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Saldino-Mainzer dysplasia	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Osteoarthritis of left hip joint due to dysplasia (disorder)	Due to	True	Skeletal dysplasia	Inferred relationship	Some	2
Osteoarthritis of right hip joint due to dysplasia	Due to	True	Skeletal dysplasia	Inferred relationship	Some	2
Seckel syndrome	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Cutis laxa, x-linked	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Marshall-Smith syndrome	Is a	True	Skeletal dysplasia	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	Skeletal dysplasia	Inferred relationship	Some
An extremely rare type of severe combined immunodeficiency syndrome (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	Skeletal dysplasia	Inferred relationship	Some
Short rib dysplasia	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Stickler syndrome	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Lethal Kniest-like syndrome	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Kniest dysplasia	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Kniest-Stickler dysplasia	Is a	True	Skeletal dysplasia	Inferred relationship	Some
An extremely rare lethal primary bone dysplasia with characteristics of thin ribs, thin long bones, high-arched palate and facial features of frontal bossing and low-set posteriorly rotated ears. Bilateral cryptorchidism may be also observed. There have been no further descriptions in the literature since 1990.	Is a	True	Skeletal dysplasia	Inferred relationship	Some
A very rare and complex hamartomatous overgrowth disorder with characteristics of progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. Neonates usually appear normal at birth. Onset usually occurs from 6-18 months of age with asymmetric overgrowth seen mainly in the hands or feet. Causal mutations have been reported in two components of the phosphatidylinositol 3-kinase (PI3K)-AKT pathway: PTEN and AKT1. The AKT1 mutation is a somatic mosaic. PTEN mutations have been reported both in the constitutive DNA and as somatic mosaic mutations. The disease is not inherited in those with a somatic AKT1 de novo mutation; PTEN mutations are inherited autosomal dominantly.	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Congenital dysplasia of bone caused by drug	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Osteosclerosis - Stanescu type	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Congenital glenoid dysplasia	Is a	False	Skeletal dysplasia	Inferred relationship	Some
A rare overgrowth syndrome with skeletal involvement characterized by pre- or postnatal onset of overgrowth, accelerated bone age in infancy and early childhood, tall stature, bony overgrowth of the skull base, spondylar dysplasia, and undermodeling of the tubular bones. Facial dysmorphism includes mild hypertelorism, depressed nasal bridge, short and broad nose, and full lower lip. Additional reported features are scoliosis, as well as delayed puberty, cryptorchidism, and hypospadias.	Is a	True	Skeletal dysplasia	Inferred relationship	Some
A rare X-linked malformation syndrome characterized by craniofacial abnormalities such as uni- or bicoronal synostosis, hypertelorism and a bifid nose, grooved or split nails, frizzy hair, abnormalities of the shoulder girdle, hands and feet.	Is a	True	Skeletal dysplasia	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by postnatal tall stature with long hands and feet, scoliosis, distinctive dysmorphic facial features (prominent forehead, proptosis, downslanting palpebral fissures, broad nasal bridge, thin upper lip, and pointed chin), hyperelastic, thin, and fragile skin, lipodystrophy, and variable intellectual disability and neurological deterioration. Additional reported manifestations include craniosynostosis, camptodactyly, progressive flexion contractures, joint dislocation, and cerebrovascular complications, among others. Brain MRI may show extensive periventricular white matter lesions and other anomalies.	Is a	True	Skeletal dysplasia	Inferred relationship	Some
NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short, bowed femurs may also be associated.	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Lordosis deformity of spine due to congenital skeletal dysplasia	Due to	True	Skeletal dysplasia	Inferred relationship	Some	2
A rare genetic bone development disorder characterized by multiple congenital fractures, slender ribs and long bones, deficient ossification of the skull, and dysmorphic facial features reminiscent of Hallermann-Streiff syndrome (such as high forehead and triangular face with small jaw, deep-set eyes, beaked, narrow nose, downturned mouth, and posteriorly angulated ears). Bilateral microphthalmia, cataracts, and pulmonary hypoplasia have also been reported. The disease is fatal in the neonatal period. There have been no further descriptions in the literature since 1995.	Is a	True	Skeletal dysplasia	Inferred relationship	Some
A rare, primary bone dysplasia characterised by proportional short stature, early cessation of bone growth, accelerated skeletal maturation, variable presence of early-onset osteoarthritis and osteochondritis dissecans, and normal endocrine evaluation. The variable dysmorphic features include mild to relative macrocephaly, frontal bossing, midfacial hypoplasia, flat nasal bridge, brachydactyly, broad thumbs, and lordosis.	Is a	True	Skeletal dysplasia	Inferred relationship	Some
A rare primary bone dysplasia characterized by micromelia with rhizomelic shortening, metaphyseal widening of the long bones, brachydactyly, small scapulae, micrognathia and thoracic insufficiency requiring tracheostomy and ventilation, and severe myopia and sensorineural hearing loss. Further dysmorphic craniofacial features include frontal bossing, proptosis, epicanthal folds, short nose, flat nasal bridge, anteverted nares, midfacial retrusion, and cleft palate.	Is a	False	Skeletal dysplasia	Inferred relationship	Some
Osteofibrous dysplasia is a rare, genetic primary bone dysplasia characterized by the presence of a benign, fibro-osseous, osteolytic tumor typically located in the tibia (occasionally the fibula, or both) and usually involving the anterior diaphyseal cortex with adjacent cortical expansion. It may on occasion be asymptomatic or may present with a palpable mass, pain, tenderness and/or anterior bowing of the tibia.	Is a	True	Skeletal dysplasia	Inferred relationship	Some
A rare autosomal recessive microcephalic primordial dwarfism characterized by congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe.	Is a	True	Skeletal dysplasia	Inferred relationship	Some
A rare primary bone dysplasia characterized by osteosclerosis localized predominantly to the metaphyses and epiphyseal margins of the appendicular bones and metaphyseal equivalents of the axial bones, as well as the vertebral endplates, costal ends, and margins of the flat bones. The skull is usually unaffected. The condition is associated with developmental delay and hypotonia. Seizures and spastic paraplegia have also been reported. Serum alkaline phosphatase and urinary pyridinoline and deoxypyridinoline levels may be elevated.	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Madelung's deformity	Is a	True	Skeletal dysplasia	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	Skeletal dysplasia	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	Skeletal dysplasia	Inferred relationship	Some
Diastrophic dysplasia	Is a	True	Skeletal dysplasia	Inferred relationship	Some
A rare primary bone dysplasia characterized by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations.	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Familial articular hypermobility syndrome (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
A rare primary bone dysplasia characterized by multiple joint dislocations, in particular in hips and knees present at birth, but the elbows, wrists, ankles, and patellae can also be affected; severe joint laxity, scoliosis, slender fingers with distal tapering, and growth deficiency developing in the post-natal period resulting in short stature. Gracile metacarpals and metatarsals, delayed bone age with poorly ossified carpal and tarsal bones, metaphyseal and epiphyseal dysplasia, slender ribs, and spondylar dysplasia are radiographical signs. Intelligence is usually normal.	Associated with	True	Skeletal dysplasia	Inferred relationship	Some	7
Congenital dysplasia of joint of knee (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Congenital dysplasia of joint of shoulder region	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Congenital dysplasia of joint of foot	Is a	True	Skeletal dysplasia	Inferred relationship	Some
Congenital dysplasia of ankle joint (disorder)	Is a	True	Skeletal dysplasia	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
170405012	Skeletal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
576961012	Congenital skeletal dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2764211017	Congenital skeletal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3758347014	Osteochondrodysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3758348016	Osteodysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2014431000005115	skeletdysplasi	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)