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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
43110010 Dysplasia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
43110010 Dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
43113012 Acquired dysplasia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
756074016 Dysplasia (morphologic abnormality) en Fully specified name Active Only initial character 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
1080891000241117 dysplasie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

37 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Dysplasia Is a Growth alteration true Inferred relationship Existential restriction modifier (core metadata concept)
Dysplasia Is a Lesion true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
A rare congenital anomaly in which one kidney is large, distended by multiple cysts and non-functional. Unilateral multicystic kidney disease is typically asymptomatic if the other kidney is fully functional but may occasionally present with abdominal obstructive signs when the cysts become too large. Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Osteogenesis imperfecta type IIC (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Melorheostosis with osteopoikilosis Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hallermann Streiff like syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Short stature, advanced bone age, early-onset osteoarthritis syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Melorheostosis of spine Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Melorheostosis of right foot (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Melorheostosis of left foot (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Melorheostosis of right lower leg (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Melorheostosis of left lower leg Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Eye defects, arachnodactyly, cardiopathy syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcephalic osteodysplastic primordial dwarfism type II (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant deafness with onychodystrophy syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Bilateral congenital dysplasia of upper limbs Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Bilateral congenital dysplasia of upper limbs Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital dysplasia of right upper limb (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital dysplasia of left upper limb (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare mandibulofacial dysostosis characterized by the association with scalp alopecia and sparse eyebrows and eyelashes. Craniofacial dysmorphic features include zygomatic and mandibular dysplasia or hypoplasia, cleft palate, micrognathia, dental anomalies, auricular dysmorphism, and eyelid anomalies, among others. Patients may experience limited jaw mobility, glossoptosis, upper airway obstruction, and conductive hearing loss. Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare primary bone dysplasia with increased bone density characterized by slowly progressive endosteal hyperostosis and osteosclerosis exclusively of the skull base and the calvaria, resulting in entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII. First symptoms often appear during the second decade of life and include disturbances in smell, vision, facial sensation and expression, hearing, and balance, as well as headaches due to increased ocular and intracranial pressure. After the fourth decade, radiological progression is minimal, although decreased intracranial volume can lead to death in severe cases. Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Severe myopia, generalized joint laxity, short stature syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
QRICH1-related intellectual disability, chondrodysplasia syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare mitochondrial disease characterised by a highly variable phenotypic spectrum comprising delayed motor development, peripheral neuropathy, cataract, short stature due to growth hormone deficiency, nystagmus, sensorineural hearing loss, dysmorphic facial features, and skeletal abnormalities consistent with spondyloepimetaphyseal dysplasia. Hyperextensible joints, achalasia, and telangiectasia have also been described. Cognition is normal. Atrophy of the pituitary gland has been observed in brain imaging. Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Early-onset calcifying leucoencephalopathy, skeletal dysplasia Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Complex lethal osteochondrodysplasia (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepiphyseal dysplasia Stanescu type Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Supratip dysplasia Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Frontorhiny (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Femur fibula ulna complex (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare primary bone dysplasia characterized by multiple, small, round to ovoid osteosclerotic foci with a predilection for the epiphyses and metaphyses of long tubular bones as well as the pelvis, scapula, carpal, and tarsal bones. The condition is usually clinically silent and discovered only incidentally, although some patients may experience mild articular pain with or without joint effusion. Bone strength is normal. Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Osteofibrous dysplasia (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Dermatosparaxis Ehlers-Danlos syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Dermatosparaxis Ehlers-Danlos syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Presence of dysplasia at surgical margin of excised tissue specimen Component True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Presence of dysplasia at surgical margin in colectomy specimen (observable entity) Component True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Surgical margin involved by dysplasia in excised tissue specimen Relative to (attribute) False Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 5
Regressive spondylometaphyseal dysplasia (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Osteosclerotic metaphyseal dysplasia (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare connective tissue disorder for which three subtypes exist, either related to the gene B4GALT7, B3GALT6 or SLC39A13, and for which the clinically overlapping characteristics include short stature (progressive in childhood), small joint hypermobility, skin hyperextensibility with soft, doughy skin especially on the hands and feet muscular hypotonia (ranging from congenitally severe to mild with later onset), skeletal anomalies and, more variably, osteopenia, delayed motor development and bowing of the limbs. Gene-specific features, with variable presentation, are additionally observed in each subtype. Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare connective tissue disorder for which three subtypes exist, either related to the gene B4GALT7, B3GALT6 or SLC39A13, and for which the clinically overlapping characteristics include short stature (progressive in childhood), small joint hypermobility, skin hyperextensibility with soft, doughy skin especially on the hands and feet muscular hypotonia (ranging from congenitally severe to mild with later onset), skeletal anomalies and, more variably, osteopenia, delayed motor development and bowing of the limbs. Gene-specific features, with variable presentation, are additionally observed in each subtype. Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Myopathic Ehlers-Danlos syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Myopathic Ehlers-Danlos syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Classical-like Ehlers-Danlos syndrome type 2 Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Classical-like Ehlers-Danlos syndrome type 2 Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare ciliopathy characterized by congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges, and retrognathia), and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis. Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares, or anteverted nares). Additional variable findings include short stature, localised aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum, and cardiac, gastrointestinal, and/or urogenital malformations, among others. Psychomotor development may be delayed. Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares, or anteverted nares). Additional variable findings include short stature, localised aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum, and cardiac, gastrointestinal, and/or urogenital malformations, among others. Psychomotor development may be delayed. Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Rhizomelic dysplasia (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Thoracic dysplasia and hydrocephalus syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Leri-Weill dyschondrosteosis Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Leri-Weill dyschondrosteosis Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
Leri-Weill dyschondrosteosis Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 5
Leri-Weill dyschondrosteosis Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 6
Leri-Weill dyschondrosteosis Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 7
Mesomelic dysplasia of lower limb Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Mesomelic dysplasia of upper limb (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Mesomelic dysplasia of lower limb Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 5
Dyschondrosteose - Nephritis Associated morphology False Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
Dyschondrosteose - Nephritis Associated morphology False Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 5
Mesomelic dysplasia Savarirayan type (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Brachydactyly type A6 (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Multiple epiphyseal dysplasia Lowry type Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
Spondylometaphyseal dysplasia, corneal dystrophy syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Benign mammary dysplasia of bilateral breasts (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Benign mammary dysplasia of bilateral breasts (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Short rib polydactyly syndrome type 5 Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
A rare primary bone dysplasia characterised 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. Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital dysplasia of limb (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome classic type 2 Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome classic type 2 Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital dysplasia of left lower limb Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital dysplasia of right lower limb (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital dysplasia of bilateral lower limbs (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital dysplasia of bilateral lower limbs (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital dysplasia of lower limb (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital glenoid dysplasia of left scapula (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital glenoid dysplasia of right scapula Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital glenoid dysplasia of bilateral scapulae (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital glenoid dysplasia of bilateral scapulae (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Melorheostosis of left humerus (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Melorheostosis of right humerus (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Melorheostosis of humerus (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Melorheostosis of femur (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Melorheostosis of left femur (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Melorheostosis of right femur (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Melorheostosis of bilateral femurs Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Melorheostosis of bilateral femurs Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2

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