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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
2616061000005117 dysplasi da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

37 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
Weill-Marchesani syndrome Associated morphology False Dysplasia Inferred relationship Some 1
Hypermobile Ehlers-Danlos syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Some 1
Ectodermal dysplasia-ocular malformation syndrome Associated morphology True Dysplasia Inferred relationship Some 1
Arteriohepatic dysplasia Associated morphology False Dysplasia Inferred relationship Some 1
Corneafragilitet, keratoglobus, blå sklera og hypermobile led Associated morphology False Dysplasia Inferred relationship Some 1
Greig cephalopolysyndactyly syndrome Associated morphology True Dysplasia Inferred relationship Some 1
Marshall syndrome Associated morphology True Dysplasia Inferred relationship Some 1
Nievergelt's syndrome Associated morphology True Dysplasia Inferred relationship Some 1
Sialic acid storage disease, severe infantile type Associated morphology True Dysplasia Inferred relationship Some 1
A rare clinically variable bone dysplasia syndrome with characteristics of 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. In more than 90% of patients, mutations in the transforming growth factor TGFB1 gene (19q13.1) are detected. Inherited as an autosomal dominant trait with reduced penetrance. Associated morphology True Dysplasia Inferred relationship Some 1
Osteogenesis imperfecta with blue sclerae Associated morphology False Dysplasia Inferred relationship Some 1
A lysosomal storage disease with characteristics of coarse facial features, macular cherry red spot, and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form. Associated morphology False Dysplasia Inferred relationship Some 1
Fibrous skin tumor of tuberous sclerosis Associated morphology False Dysplasia Inferred relationship Some 1
Dysplasia of vagina Associated morphology False Dysplasia Inferred relationship Some 1
Encefalooftalmisk dysplasi Associated morphology False Dysplasia Inferred relationship Some 2
Pachyonychia congenita syndrome Associated morphology False Dysplasia Inferred relationship Some 1
Spondyloepifyseal dysplasi, ikke nærmere specificeret Associated morphology False Dysplasia Inferred relationship Some 1
Diffuse fibroadenosis of breast Associated morphology False Dysplasia Inferred relationship Some 1
Leri's pleonosteosis syndrome Associated morphology True Dysplasia Inferred relationship Some 1
Ehlers-Danlos' syndrom, prokollagenproteinaseresistent Associated morphology False Dysplasia Inferred relationship Some 1
A type of pseudohypoparathyroidism with characteristics of resistance to parathyroid hormone (PTH), which manifests with hypocalcaemia, hyperphosphataemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy and normal expression of the Gs protein with a normal urinary cAMP response. To date no specific genetic alteration responsible for this disorder has been detected. It has been hypothesised that in most cases it may be an acquired defect secondary to vitamin D deficiency such as in misdiagnosed secondary renal hyperparathyroidism. Associated morphology False Dysplasia Inferred relationship Some 1
A severe form of otopalatodigital syndrome spectrum disorder with characteristics of dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system and intestine) and poor survival. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation are less severely affected. Associated morphology False Dysplasia Inferred relationship Some 1
Atelosteogenesis Associated morphology True Dysplasia Inferred relationship Some 1
Feline osteogenesis imperfecta Associated morphology False Dysplasia Inferred relationship Some 1
Moynahans syndrom Associated morphology False Dysplasia Inferred relationship Some 1
Madelung's deformity Associated morphology True Dysplasia Inferred relationship Some 1
Yellow nails Associated morphology False Dysplasia Inferred relationship Some 1
Maffucci syndrome Associated morphology False Dysplasia Inferred relationship Some 1
Von Hippel-Lindau syndrome Associated morphology False Dysplasia Inferred relationship Some 1
Dysplasia of thymus gland with immunodeficiency Associated morphology False Dysplasia Inferred relationship Some 1
Osteochondrodysplasia with osteopetrosis Associated morphology True Dysplasia Inferred relationship Some 1
Beals auriculo-osteodysplasia syndrome Associated morphology True Dysplasia Inferred relationship Some 1
Periodontal Ehlers-Danlos syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Some 1
Oral-facial-digital syndrome Associated morphology False Dysplasia Inferred relationship Some 2
Peutz-Jeghers polyps of small bowel Associated morphology False Dysplasia Inferred relationship Some 3
The mildest form of otopalatodigital syndrome spectrum disorder, characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation have a broad range of phenotypic expression. Associated morphology False Dysplasia Inferred relationship Some 1
Peutz-Jeghers syndrome Associated morphology False Dysplasia Inferred relationship Some 1
Osteogenesis imperfecta with progressive deformity AND normal sclerae Associated morphology False Dysplasia Inferred relationship Some 1
An autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group. Clinical signs include slowly developing intellectual disability beginning with clumsiness, late speech, and hyperkinesia, mild facial dysmorphism, and slight kyphoscoliosis. Caused by mutations in gene AGU located on 4q34.3. Transmission is autosomal recessive. Associated morphology False Dysplasia Inferred relationship Some 1
Arthrochalasia Ehlers-Danlos syndrome (disorder) Associated morphology False Dysplasia Inferred relationship Some 1
A type of pseudohypoparathyroidism with characteristics of localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance. Severity of symptoms can vary greatly between patients and even among kindreds. The majority of cases are sporadic, but an autosomal dominant transmission has also been described. About 70% of patients display methylation defects, sporadic or genetic-based, at GNAS (20q13.2-q13.3) differentially methylated regions (DMRs). Associated morphology False Dysplasia Inferred relationship Some 1
Juvenile fucosidosis Associated morphology False Dysplasia Inferred relationship Some 1
Rhizomelic chondrodysplasia punctata syndrome Associated morphology False Dysplasia Inferred relationship Some 1
Benign mammary dysplasia Associated morphology False Dysplasia Inferred relationship Some 1
Mannosidosis, type II Associated morphology True Dysplasia Inferred relationship Some 1
Spinal cord dysplasia Associated morphology True Dysplasia Inferred relationship Some 1
Pseudohypoparathyroidism type I A Associated morphology True Dysplasia Inferred relationship Some 1
Menkes kinky-hair syndrome Associated morphology False Dysplasia Inferred relationship Some 1
Cutis laxa, x-linked Associated morphology False Dysplasia Inferred relationship Some 1
Dermatofibrosis lenticularis disseminata Associated morphology False Dysplasia Inferred relationship Some 1
Infantile fucosidosis (disorder) Associated morphology False Dysplasia Inferred relationship Some 1
Jarcho-Levin syndrome Associated morphology True Dysplasia Inferred relationship Some 2
Mannosidosis, type I Associated morphology True Dysplasia Inferred relationship Some 1
Multiple synostosis syndrome Associated morphology True Dysplasia Inferred relationship Some 1
Antley-Bixler syndrome Associated morphology False Dysplasia Inferred relationship Some 1
Larsen syndrome Associated morphology False Dysplasia Inferred relationship Some 1
Accessory ossification center Associated morphology False Dysplasia Inferred relationship Some 1
Brachydactyly syndrome type E Associated morphology True Dysplasia Inferred relationship Some 1
Fucosidosis is an extremely rare lysosomal storage disorder with characteristics of a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis. Associated morphology False Dysplasia Inferred relationship Some 1
Mannosidosis (disorder) Associated morphology True Dysplasia Inferred relationship Some 1
Pseudo-Hurler polydystrophy Associated morphology True Dysplasia Inferred relationship Some 1
Miller syndrome Associated morphology False Dysplasia Inferred relationship Some 1
X-linked Ehlers-Danlos syndrome Associated morphology False Dysplasia Inferred relationship Some 1
Cystic fibroadenosis of breast Associated morphology False Dysplasia Inferred relationship Some 1
Bronchopulmonary dysplasia of newborn Associated morphology False Dysplasia Inferred relationship Some 1
Hereditary benign intraepithelial dyskeratosis Associated morphology False Dysplasia Inferred relationship Some 1
I-cell disease Associated morphology True Dysplasia Inferred relationship Some 1
XTE syndrome Associated morphology False Dysplasia Inferred relationship Some 1
Acrocephalosyndactyly type V (disorder) Associated morphology False Dysplasia Inferred relationship Some 3
Familial articular hypermobility syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Some 1
Tuberous sclerosis syndrome Associated morphology False Dysplasia Inferred relationship Some 1
Dysplasia of cervix (disorder) Associated morphology False Dysplasia Inferred relationship Some 1
A rare skeletal dysplasia with characteristics of peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible individuals with a male karyotype. The disorder is autosomal dominant; however, most cases are due to heterozygous de novo mutations in the SOX9 gene (localized to 17q24). In rare individuals the disorder is caused by chromosomal recombination (deletion or translocation) involving the region 17q24. Associated morphology True Dysplasia Inferred relationship Some 2
Johanson-Blizzard syndrome Associated morphology True Dysplasia Inferred relationship Some 1
Fibrous dysplasia of jaw Associated morphology False Dysplasia Inferred relationship Some
Septo-optic dysplasia sequence (disorder) Associated morphology False Dysplasia Inferred relationship Some
Chronic fibroadenosis of breast Associated morphology False Dysplasia Inferred relationship Some 1
A rare genetic syndrome with characteristics of limb shortening and abnormalities of the head, face and external genitalia. Two forms of the syndrome with different patterns of inheritance and variable frequency of clinical signs have been described: a milder autosomal dominant form and a more severe autosomal recessive form. The syndrome has a wide clinical spectrum. Transmission is autosomal dominant or recessive. Associated morphology False Dysplasia Inferred relationship Some 1
Hyperphosphatasia-osteoectasia syndrome Associated morphology True Dysplasia Inferred relationship Some 1
Metaphyseal chondrodysplasia, McKusick type Associated morphology True Dysplasia Inferred relationship Some 1
Grebe syndrome Associated morphology False Dysplasia Inferred relationship Some 1
Baller-Gerold syndrome Associated morphology True Dysplasia Inferred relationship Some 1
Segmental fibroadenosis of breast Associated morphology False Dysplasia Inferred relationship Some 1
Osteogenesis imperfecta Associated morphology True Dysplasia Inferred relationship Some 1
Neurocutaneous syndrome Associated morphology False Dysplasia Inferred relationship Some 1
Stickler syndrome Associated morphology False Dysplasia Inferred relationship Some 1
Hallermann-Streiff syndrome Associated morphology False Dysplasia Inferred relationship Some 1
Familial x-linked hypophosphatemic vitamin D refractory rickets Associated morphology True Dysplasia Inferred relationship Some 1
Osteopathia striata Associated morphology True Dysplasia Inferred relationship Some 1
Progressive myositis ossificans Associated morphology False Dysplasia Inferred relationship Some 1
Caudal regression syndrome Associated morphology False Dysplasia Inferred relationship Some 1
Ehlers-Danlos' syndrom, type 1 Associated morphology False Dysplasia Inferred relationship Some 1
Ehlers-Danlos syndrome, dysfibronectinemic Associated morphology False Dysplasia Inferred relationship Some 1
Chondrodystrophia malacia Associated morphology False Dysplasia Inferred relationship Some 1
Osteitis fibrosa cystica Associated morphology False Dysplasia Inferred relationship Some 1
Osteogenesis imperfecta, recessive perinatal lethal Associated morphology True Dysplasia Inferred relationship Some 1
Ectodermal dysplasia Associated morphology True Dysplasia Inferred relationship Some 1
Frontonasal dysplasia sequence Associated morphology False Dysplasia Inferred relationship Some 1
Salla disease Associated morphology True Dysplasia Inferred relationship Some 1
Hyperplastisk kondrodystrofi Associated morphology False Dysplasia Inferred relationship Some 1
A form of primary hypertrophic osteoarthropathy, a rare hereditary disorder with characteristics of digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhoea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a forme frusta with prominent pachydermia and minimal-to-absent skeletal changes. The disease typically begins during childhood or adolescence and may stabilise after 5-20 years of progression, or progress constantly. Mutations in the HPGD gene (4q33-q34) have been identified. The gene encodes 15-hydroxyprostaglandin dehydrogenase (15-PGDH), the main enzyme of prostaglandin degradation. Inherited as an autosomal recessive trait. Associated morphology False Dysplasia Inferred relationship Some 1

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