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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
Melorheostosis of bilateral femurs (disorder) Associated morphology True Dysplasia Inferred relationship Some 2
Melorheostosis of skull Associated morphology True Dysplasia Inferred relationship Some 1
Congenital dysplasia of joint of knee (disorder) Associated morphology True Dysplasia Inferred relationship Some 1
Congenital dysplasia of joint of right knee (disorder) Associated morphology True Dysplasia Inferred relationship Some 1
Congenital dysplasia of joint of left knee (disorder) Associated morphology True Dysplasia Inferred relationship Some 1
Congenital dysplasia of joint of shoulder region Associated morphology True Dysplasia Inferred relationship Some 1
Congenital dysplasia of joint of foot Associated morphology True Dysplasia Inferred relationship Some 1
Congenital dysplasia of joint of left foot (disorder) Associated morphology True Dysplasia Inferred relationship Some 1
Congenital dysplasia of joint of right foot (disorder) Associated morphology True Dysplasia Inferred relationship Some 1
Congenital dysplasia of joint of bilateral feet (disorder) Associated morphology True Dysplasia Inferred relationship Some 1
Congenital dysplasia of joint of bilateral feet (disorder) Associated morphology True Dysplasia Inferred relationship Some 2
Congenital dysplasia of joint of left shoulder region Associated morphology True Dysplasia Inferred relationship Some 1
Congenital dysplasia of joint of right shoulder region (disorder) Associated morphology True Dysplasia Inferred relationship Some 1
Congenital dysplasia of right ankle joint (disorder) Associated morphology True Dysplasia Inferred relationship Some 1
Congenital dysplasia of ankle joint (disorder) Associated morphology True Dysplasia Inferred relationship Some 1
Congenital dysplasia of left ankle joint (disorder) Associated morphology True Dysplasia Inferred relationship Some 1
A rare closed lipomatous, dysraphic malformation of the lower spinal cord characterized by extramedullary lipomatous mass attached to the conus region. The conus is dysplastic and poorly delineated. Various morphological subtypes are recognized. Possible symptoms include bowel and bladder dysfunction and neuro-orthopedic deformity of the lower limbs. Associated morphology True Dysplasia Inferred relationship Some 2
Mild bronchopulmonary dysplasia of newborn Associated morphology True Dysplasia Inferred relationship Some 1
Moderate bronchopulmonary dysplasia of newborn Associated morphology True Dysplasia Inferred relationship Some 1
Severe bronchopulmonary dysplasia of newborn Associated morphology True Dysplasia Inferred relationship Some 1
Melorheostosis of left rib (disorder) Associated morphology True Dysplasia Inferred relationship Some 1
Melorheostosis of right rib (disorder) Associated morphology True Dysplasia Inferred relationship Some 1
Melorheostosis of rib Associated morphology True Dysplasia Inferred relationship Some 1
Melorheostosis of bone of right hand (disorder) Associated morphology True Dysplasia Inferred relationship Some 1
Melorheostosis of bone of hand (disorder) Associated morphology True Dysplasia Inferred relationship Some 1
Melorheostosis of bone of left hand Associated morphology True Dysplasia Inferred relationship Some 1
Melorheostosis of bone of left forearm Associated morphology True Dysplasia Inferred relationship Some 1
Melorheostosis of bone of right forearm Associated morphology True Dysplasia Inferred relationship Some 1
Melorheostosis of bone of forearm Associated morphology True Dysplasia Inferred relationship Some 1
Surgical margin involved by dysplasia in excised tissue specimen (observable entity) This attribute is used to specify the denominator of a relational property type, such as a ratio or proportion. True Dysplasia Inferred relationship Some 1
A rare mesomelic and rhizo-mesomelic dysplasia with characteristics of marked mesomelic shortening of the lower limbs, cutaneous syndactyly and nail abnormalities (placed on the palmar side of the finger, dysplastic or absent) in hands and feet due to mutations in EN1 gene. Other clinical features may include genitourinary abnormalities (including bilateral cryptorchidism, vesicoureteral reflux, hydronephrosis, hypoplastic labia majora), spasticity and seizures. Associated morphology True Dysplasia Inferred relationship Some 2
A rare mesomelic and rhizo-mesomelic dysplasia with characteristics of marked mesomelic shortening of the lower limbs, cutaneous syndactyly and nail abnormalities (placed on the palmar side of the finger, dysplastic or absent) in hands and feet due to mutations in EN1 gene. Other clinical features may include genitourinary abnormalities (including bilateral cryptorchidism, vesicoureteral reflux, hydronephrosis, hypoplastic labia majora), spasticity and seizures. Associated morphology True Dysplasia Inferred relationship Some 3
Congenital dysplasia of bilateral ankle joints (disorder) Associated morphology True Dysplasia Inferred relationship Some 1
Congenital dysplasia of bilateral ankle joints (disorder) Associated morphology True Dysplasia Inferred relationship Some 2
Melorheostosis of right shoulder region Associated morphology True Dysplasia Inferred relationship Some 1
Melorheostosis of left shoulder region (disorder) Associated morphology True Dysplasia Inferred relationship Some 1
Melorheostosis of shoulder region (disorder) Associated morphology True Dysplasia Inferred relationship Some 1
Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency Associated morphology True Dysplasia Inferred relationship Some 1
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation Associated morphology True Dysplasia Inferred relationship Some 2
A rare primary bone dysplasia characterised by severe spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability and Leber congenital amaurosis. Brain anomalies (including delayed myelinisation, white matter hyperintensity, hypomyelinating leucoencephalopathy, cerebral and cerebellar hypoplasia/atrophy), hypotonia, ataxia, dysmorphic facial features (including deep nasal bridge and large mouth) and irregular dentition were also reported. Associated morphology True Dysplasia Inferred relationship Some 1
A rare multiple epiphyseal dysplasia characterized by mild short stature, joint pain and early-onset osteoarthropathy, frequently requiring joint replacement. Radiographs from affected individuals may manifest features typical of Desbuquois dysplasia, including irregularly shaped capital femoral epiphyses, a short femoral neck (resembles the Swedish key appearance of the proximal femur) and advanced carpal ossification in the hands. However, some other features typical of Desbuquois dysplasia like joint dislocations, scoliosis, coronal clefts, or other hand anomalies including accessory ossification centers and/or delta phalanx are not observed. Anterior wedging of vertebral bodies, small epiphyses at the knees with metaphyseal flare may be present. Patients have normal metacarpal and phalangeal lengths, no distinctive facies nor neurologic complications. Associated morphology True Dysplasia Inferred relationship Some 1
A rare skeletal dysplasia characterized by disproportionate short stature with short limbs, small hands and feet, and midface hypoplasia with small nose. Mild spondylar dysplasia, delayed epiphyseal ossification of the hip and knee, and severe brachydactyly with cone shaped phalangeal epiphyses are characteristic features. In adulthood, premature spondylosis and degenerative joint disease develop in some patients. Frequent respiratory infections with prolonged cough and inspiratory stridor, consistent with laryngomalacia, can also be present. Intelligence, dentition, hearing and visual acuity are not affected. Associated morphology True Dysplasia Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay and intellectual disability, epileptic encephalopathy, horseshoe or hypoplastic kidney, failure to thrive, hypertrichosis of the limbs and respiratory problems (including apnoea, multicompartmental respiratory disease, intermittent hyperventilation) along with mesomelic dysplasia (Nievergelt/Savarirayan type). Dysmorphic facial features may include microcephaly, synophrys, large nose with prominent nasal tip and low hanging columella, protruding ears, smooth/short philtrum, wide mouth with square upper lip, widely spaced teeth and micrognathia. Strabismus, myopia, cortical visual impairment and hearing loss can also be present. Associated morphology True Dysplasia Inferred relationship Some 1
A rare primary bone dysplasia with increased bone density characterized by lethal neonatal dwarfism with hydrops. Cortical thickening throughout the skeleton, particularly in the long bones and ribs, brachycephaly, severe brachydactyly and craniofacial abnormalities are reported. Associated morphology True Dysplasia Inferred relationship Some 1
Dysplastic cortical hyperostosis Kozlowski Tsuruta type is a form of rare dysplastic cortical hyperostosis characterized by narrow chest, short limbs with generalized, symmetrical cortical thickening throughout the skeleton, particularly in the long bones and ribs. Additional features may include sclerotic metacarpals and metatarsals with proximal tapering and mild sclerosis of the pelvis. No cortical thickening was reported in skull or mandible. Size of the hands and feet are normal. Microcephaly, abnormal lung segmentation, hepatosplenomegaly, poorly developed cerebral sulci and complete renal duplication has been observed. It is a lethal condition associated to severe fetal hydrops and polyhydramnios. Associated morphology True Dysplasia Inferred relationship Some 1
Dysplastic cortical hyperostosis Al-Gazali type is a form of rare dysplastic cortical hyperostosis characterized by narrow chest, short limbs with generalized, symmetrical cortical thickening throughout the skeleton, particularly in the long bones and ribs. Additional features may include sclerotic metacarpals and metatarsals with proximal tapering and mild sclerosis of the pelvis. No cortical thickening reported in skull or mandible. Size of the hands and feet are normal. Microcephaly, abnormal lung segmentation, hepatosplenomegaly, poorly developed cerebral sulci and complete renal duplication has been observed. It is a lethal condition associated to severe fetal hydrops and polyhydramnios. Associated morphology True Dysplasia Inferred relationship Some 1
A rare dysostosis with brachydactyly characterised by short digits predominantly on the preaxial (radial) side resulting in stub thumbs, short index fingers and a cutaneous web between the first and second fingers. No extraskeletal manifestations are present. Associated morphology True Dysplasia Inferred relationship Some 3
Congenital dysplasia of head of femur (disorder) Associated morphology True Dysplasia Inferred relationship Some 1
Dysplasia of megakaryocyte cell (disorder) Associated morphology True Dysplasia Inferred relationship Some 1
Congenital dysplasia of fronto-parietal cortex (disorder) Associated morphology True Dysplasia Inferred relationship Some 1
Congenital dysplasia of fronto-parietal cortex (disorder) Associated morphology True Dysplasia Inferred relationship Some 2
Dysplasia of mesenchymal cell of placenta (disorder) Associated morphology True Dysplasia Inferred relationship Some 1
Congenital dysplasia of nail unit (disorder) Associated morphology True Dysplasia Inferred relationship Some 1
Congenital dysplasia of spine (disorder) Associated morphology True Dysplasia Inferred relationship Some 1
Congenital dysplasia of nail unit of toe (disorder) Associated morphology True Dysplasia Inferred relationship Some 1
Asymmetric dysplasia of radius Associated morphology True Dysplasia Inferred relationship Some 1
Congenital dysplasia of thorax (disorder) Associated morphology True Dysplasia Inferred relationship Some 1
Congenital superior cerebellar dysplasia Associated morphology True Dysplasia Inferred relationship Some 1
Congenital dysplasia of nail unit of finger (disorder) Associated morphology True Dysplasia Inferred relationship Some 1
Congenital dysplasia of bronchus (disorder) Associated morphology True Dysplasia Inferred relationship Some 1
Congenital dysplasia of radius (disorder) Associated morphology True Dysplasia Inferred relationship Some 1
Congenital dysplasia of second lumbar vertebra (disorder) Associated morphology True Dysplasia Inferred relationship Some 1
Congenital dysplasia of cervical vertebra (disorder) Associated morphology True Dysplasia Inferred relationship Some 1
Schöpf-Schulz-Passarge syndrome Associated morphology True Dysplasia Inferred relationship Some 1
A rare spondylodysplastic dysplasia characterized by severe, neonatal skeletal manifestations (including narrow thorax, rhizomelic shortening of the limbs with cupped anterior ends, mild to severe platyspondyly, lacy iliac crests, delayed ossification of the caudal ilia, ragged/cupped metaphyses of the long bones and hypoplastic pubic rami), severe respiratory failure (patients could require lifelong ventilation support), severe short stature and developmental delay. Additional clinical features may include atrial septal defect, seizures, pulmonary hypoplasia, gallbladder hypoplasia and hepatic fibrosis. Neutropenia and decreased serum amylase can be present. Associated morphology True Dysplasia Inferred relationship Some 1
A rare type of Ehlers-Danlos syndrome characterised by connective tissue defects (joint laxity of finger joints and knees, small joint hypermotility and tissue fragility), vascular complications (atrioventricular defect, symptomatic cerebral aneurysm, vascular dissection) and frontoparietally accentuated polymicrogyria of the cobblestone variant. Specific brain anomalies (including cerebrocortical dysplasia, cerebellar microcysts and white matter anomalies) are present in all patients. Most of the affected individuals have developmental delay and may develop epilepsy. Additional clinical features include spontaneous intracranial hypotension, idiopathic intracranial hypertension, headache, chronic pain syndrome, peripheral neuropathy, plexopathy, translucent skin and clubfoot. Dysmorphic features such as eye anomalies (strabismus, bilateral hyperopia, esotropia, proptosis), pinched nose, thin upper lip, crowded teeth and retrognathia are also reported. Associated morphology True Dysplasia Inferred relationship Some 2
A rare type of Ehlers-Danlos syndrome characterised by connective tissue defects (joint laxity of finger joints and knees, small joint hypermotility and tissue fragility), vascular complications (atrioventricular defect, symptomatic cerebral aneurysm, vascular dissection) and frontoparietally accentuated polymicrogyria of the cobblestone variant. Specific brain anomalies (including cerebrocortical dysplasia, cerebellar microcysts and white matter anomalies) are present in all patients. Most of the affected individuals have developmental delay and may develop epilepsy. Additional clinical features include spontaneous intracranial hypotension, idiopathic intracranial hypertension, headache, chronic pain syndrome, peripheral neuropathy, plexopathy, translucent skin and clubfoot. Dysmorphic features such as eye anomalies (strabismus, bilateral hyperopia, esotropia, proptosis), pinched nose, thin upper lip, crowded teeth and retrognathia are also reported. Associated morphology True Dysplasia Inferred relationship Some 3
A rare type of Ehlers-Danlos syndrome characterised by connective tissue defects (joint laxity of finger joints and knees, small joint hypermotility and tissue fragility), vascular complications (atrioventricular defect, symptomatic cerebral aneurysm, vascular dissection) and frontoparietally accentuated polymicrogyria of the cobblestone variant. Specific brain anomalies (including cerebrocortical dysplasia, cerebellar microcysts and white matter anomalies) are present in all patients. Most of the affected individuals have developmental delay and may develop epilepsy. Additional clinical features include spontaneous intracranial hypotension, idiopathic intracranial hypertension, headache, chronic pain syndrome, peripheral neuropathy, plexopathy, translucent skin and clubfoot. Dysmorphic features such as eye anomalies (strabismus, bilateral hyperopia, esotropia, proptosis), pinched nose, thin upper lip, crowded teeth and retrognathia are also reported. Associated morphology True Dysplasia Inferred relationship Some 4
Intestinal metaplasia with dysplasia of gastric mucosa (disorder) Associated morphology True Dysplasia Inferred relationship Some 1
Melorheostosis of sternum Associated morphology True Dysplasia Inferred relationship Some 1
Melorheostosis of left ankle region (disorder) Associated morphology True Dysplasia Inferred relationship Some 1
Melorheostosis of right ankle region (disorder) Associated morphology True Dysplasia Inferred relationship Some 1
Melorheostosis of ankle region (disorder) Associated morphology True Dysplasia Inferred relationship Some 1
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB gain of function mutation (disorder) Associated morphology True Dysplasia Inferred relationship Some 1

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