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25723000: Dysplasia (morphologic abnormality)

Status: current, Not 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
43110010 Dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
756074016 Dysplasia (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1080891000241117 dysplasie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

38 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Dysplasia Is a Growth alteration true Inferred relationship Some
Dysplasia Is a Lesion (morphologic abnormality) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital dysplasia of tricuspid valve Associated morphology True Dysplasia Inferred relationship Some 1
A rare hereditary patellar dysostosis characterised by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies. Associated morphology True Dysplasia Inferred relationship Some 3
A rare genetic eye disease characterized by abnormal proliferation of retinal tissue resulting in the formation of retinal folds, thereby causing gliosis and, clinically, variable degrees of visual impairment. No clinical findings other than those associated with the eyes have been demonstrated. Associated morphology True Dysplasia Inferred relationship Some 1
Geographic retinal dysplasia Associated morphology True Dysplasia Inferred relationship Some 1
Scypho-patellar dysplasia (disorder) Associated morphology True Dysplasia Inferred relationship Some 1
Ehlers-Danlos syndrome, recessive type 4 Associated morphology False Dysplasia Inferred relationship Some 2
Ehlers-Danlos syndrome, recessive type 4 Associated morphology False Dysplasia Inferred relationship Some 3
Mandibuloacral dysostosis Associated morphology True Dysplasia Inferred relationship Some 3
Vascular Ehlers-Danlos syndrome Associated morphology True Dysplasia Inferred relationship Some 2
Vascular Ehlers-Danlos syndrome Associated morphology True Dysplasia Inferred relationship Some 3
syndrome d'Ehlers-Danlos type 1 Associated morphology False Dysplasia Inferred relationship Some 2
syndrome d'Ehlers-Danlos type 1 Associated morphology False Dysplasia Inferred relationship Some 3
Cutis laxa, x-linked Associated morphology False Dysplasia Inferred relationship Some 2
Cutis laxa, x-linked Associated morphology True Dysplasia Inferred relationship Some 3
syndrome d'Ehlers-Danlos de type 7B Associated morphology False Dysplasia Inferred relationship Some 2
syndrome d'Ehlers-Danlos de type 7B Associated morphology False Dysplasia Inferred relationship Some 3
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. Associated morphology True Dysplasia Inferred relationship Some 1
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. Associated morphology True Dysplasia Inferred relationship Some 2
Robinson nail dystrophy-deafness syndrome Associated morphology True Dysplasia Inferred relationship Some 2
Ehlers-Danlos syndrome, hydroxylysine-deficient Associated morphology True Dysplasia Inferred relationship Some 2
Ehlers-Danlos syndrome, hydroxylysine-deficient Associated morphology True Dysplasia Inferred relationship Some 3
syndrome d'Ehlers-Danlos de type cyphoscoliotique Associated morphology False Dysplasia Inferred relationship Some 2
syndrome d'Ehlers-Danlos de type cyphoscoliotique Associated morphology False Dysplasia Inferred relationship Some 3
Ehlers-Danlos syndrome, dysfibronectinemic Associated morphology True Dysplasia Inferred relationship Some 2
Ehlers-Danlos syndrome, dysfibronectinemic Associated morphology True Dysplasia Inferred relationship Some 3
Ehlers-Danlos syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Some 1
Ehlers-Danlos syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Some 2
syndrome d'Ehlers-Danlos type 2 Associated morphology False Dysplasia Inferred relationship Some 2
syndrome d'Ehlers-Danlos type 2 Associated morphology False Dysplasia Inferred relationship Some 3
Arthrochalasia Ehlers-Danlos syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Some 3
Arthrochalasia Ehlers-Danlos syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Some 2
Periodontal Ehlers-Danlos syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Some 3
Hypermobile Ehlers-Danlos syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Some 2
Hypermobile Ehlers-Danlos syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Some 3
Ehlers-Danlos syndrome, dominant type 4 Associated morphology False Dysplasia Inferred relationship Some 2
Ehlers-Danlos syndrome, dominant type 4 Associated morphology False Dysplasia Inferred relationship Some 3
Familial articular hypermobility syndrome (disorder) Associated morphology False Dysplasia Inferred relationship Some 2
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Associated morphology False Dysplasia Inferred relationship Some 4
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Associated morphology False Dysplasia Inferred relationship Some 3
X-linked Ehlers-Danlos syndrome Associated morphology True Dysplasia Inferred relationship Some 2
X-linked Ehlers-Danlos syndrome Associated morphology True Dysplasia Inferred relationship Some 3
Periodontitis co-occurrent with Ehlers-Danlos syndrome type 4 Associated morphology False Dysplasia Inferred relationship Some 4
Periodontitis co-occurrent with Ehlers-Danlos syndrome type 4 Associated morphology False Dysplasia Inferred relationship Some 3
A form of spondylodysplastic Ehlers-Danlos syndrome (EDS) due to variants in the SLC39A13 gene and characterized by the presence of thin and finely wrinkled skin of the hands and feet, hypermobile distal joints, characteristic facial features (downslanting palpebral fissures, mild hypertelorism, prominent eyes with a paucity of periorbital fat, blueish sclerae, microdontia or oligodontia), muscular hypotonia, associated with significant short stature of childhood-onset, ocular findings (myopia and keratoconus) and, more rarely, vascular complications. Mild radiographic changes were observed, among which platyspondyly is a useful diagnostic feature. Associated morphology True Dysplasia Inferred relationship Some 2
A form of spondylodysplastic Ehlers-Danlos syndrome (EDS) due to variants in the SLC39A13 gene and characterized by the presence of thin and finely wrinkled skin of the hands and feet, hypermobile distal joints, characteristic facial features (downslanting palpebral fissures, mild hypertelorism, prominent eyes with a paucity of periorbital fat, blueish sclerae, microdontia or oligodontia), muscular hypotonia, associated with significant short stature of childhood-onset, ocular findings (myopia and keratoconus) and, more rarely, vascular complications. Mild radiographic changes were observed, among which platyspondyly is a useful diagnostic feature. Associated morphology True Dysplasia Inferred relationship Some 1
Sacral dysgenesis Associated morphology False Dysplasia Inferred relationship Some 1
Sacral agenesis Associated morphology False Dysplasia Inferred relationship Some 2
A rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies. Associated morphology False Dysplasia Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by aplasia cutis congenita of the scalp, breast anomalies ranging from hypothelia or athelia to amastia, and anomalies of the external ears. Variable clinical characteristics include nail and dental anomalies, syndactyly and camptodactyly of fingers and/or toes, sparse or absent secondary sexual hair, renal malformations, and facial dysmorphism. Cases with severe hypotonia and developmental delay have been reported. Associated morphology True Dysplasia Inferred relationship Some 3
Dysplasia of larynx Associated morphology True Dysplasia Inferred relationship Some 1
Otomandibular dysostosis Associated morphology True Dysplasia Inferred relationship Some 2
Hypermobile Ehlers-Danlos syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Some 4
Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome is a rare, genetic, neural tube defect malformation syndrome characterized by sacral agenesis and abnormal vertebral body ossification with normal vertebral arches associated with notochord canal persistence on ultrasonography. Additional findings include bilateral clubfoot, oligohydramnios, single umbilical artery and, in some, increased nuchal translucency. Associated morphology True Dysplasia Inferred relationship Some 3
A form of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, fragile and thin hand skin breaks or bruises easily), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia. Associated morphology True Dysplasia Inferred relationship Some 2
A form of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, fragile and thin hand skin breaks or bruises easily), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia. Associated morphology True Dysplasia Inferred relationship Some 1
Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985. Associated morphology True Dysplasia Inferred relationship Some 2
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. Associated morphology True Dysplasia Inferred relationship Some 4
Achondrogenesis Associated morphology True Dysplasia Inferred relationship Some 1
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. Associated morphology True Dysplasia Inferred relationship Some 1
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. Associated morphology True Dysplasia Inferred relationship Some 2
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. Associated morphology True Dysplasia Inferred relationship Some 1
Ulbright-Hodes syndrome is characterized by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a Potter-like facies. The syndrome has been described in three infants (one pair of siblings and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive. Associated morphology True Dysplasia Inferred relationship Some 1
A rare ectodermal dysplasia syndrome characterized by bilateral retinitis pigmentosa, trichodysplasia (generalized hypotrichosis, structural changes), dental anomalies, onychodysplasia, and dry and scaly skin. There have been no further descriptions in the literature since 1988. Associated morphology True Dysplasia Inferred relationship Some 2
Autosomal dominant omodysplasia (disorder) Associated morphology True Dysplasia Inferred relationship Some 1
A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP22, and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype. Associated morphology True Dysplasia Inferred relationship Some 2
A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP22, and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype. Associated morphology True Dysplasia Inferred relationship Some 1
A rare syndrome characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992. Associated morphology True Dysplasia Inferred relationship Some 1
Craniofaciofrontodigital syndrome is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies). Associated morphology True Dysplasia Inferred relationship Some 2
Odonto-onychial dysplasia with alopecia Associated morphology True Dysplasia Inferred relationship Some 3
Olive dysplasia Associated morphology True Dysplasia Inferred relationship Some 1
A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height <120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type. Associated morphology True Dysplasia Inferred relationship Some 1
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) Associated morphology True Dysplasia Inferred relationship Some 1
Metachondromatosis Associated morphology True Dysplasia Inferred relationship Some 1
Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported. Associated morphology True Dysplasia Inferred relationship Some 1
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). Associated morphology True Dysplasia Inferred relationship Some 2
A rare frontonasal dysplasia characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin, nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development. Associated morphology True Dysplasia Inferred relationship Some 3
A polymalformative syndrome characterized by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. Associated morphology True Dysplasia Inferred relationship Some 4
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay. Associated morphology True Dysplasia Inferred relationship Some 1
Osteogenesis imperfecta type III (disorder) Associated morphology True Dysplasia Inferred relationship Some 1
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. Associated morphology True Dysplasia Inferred relationship Some 1
syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Associated morphology False Dysplasia Inferred relationship Some 3
syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Associated morphology False Dysplasia Inferred relationship Some 2
Renal dysplasia Associated morphology True Dysplasia Inferred relationship Some 1
Oro-facial digital syndrome type 10 (disorder) Associated morphology True Dysplasia Inferred relationship Some 5
Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies. Associated morphology True Dysplasia Inferred relationship Some 1
Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies. Associated morphology True Dysplasia Inferred relationship Some 2
Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies. Associated morphology True Dysplasia Inferred relationship Some 3
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). Associated morphology True Dysplasia Inferred relationship Some 3
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. Associated morphology True Dysplasia Inferred relationship Some 1
Dysplasia of right kidney Associated morphology True Dysplasia Inferred relationship Some 1
Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis. Associated morphology True Dysplasia Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings. Associated morphology True Dysplasia Inferred relationship Some 1
Vitreoretinal dysplasia Associated morphology True Dysplasia Inferred relationship Some 2
Vitreoretinal dysplasia Associated morphology True Dysplasia Inferred relationship Some 1
A rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported. Associated morphology True Dysplasia Inferred relationship Some 3
A rare, genetic, ectodermal dysplasia syndrome characterized by persistent skin fragility which manifests with blistering and erosions due to minimal trauma, wooly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated. Associated morphology True Dysplasia Inferred relationship Some 2
Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis. Associated morphology True Dysplasia Inferred relationship Some 2
Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis. Associated morphology True Dysplasia Inferred relationship Some 1
Greenberg dysplasia (disorder) Associated morphology True Dysplasia Inferred relationship Some 1
A rare, genetic, primary bone dysplasia with decreased bone density disorder characterized by childhood-onset osteoporosis associated with recurrent, multiple, osteoporotic, long bone fractures and/or vertebral compression fractures, significant height loss in adulthood, low bone mineral density scores, and otherwise no other abnormalities. Heterozygote females may be unaffected or have a milder phenotype. Associated morphology True Dysplasia Inferred relationship Some 1
syndrome de dysplasie corticale-épilepsie focale Associated morphology False Dysplasia Inferred relationship Some 1

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