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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
Familial osteodysplasia Anderson type Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Tetramelic monodactyly (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Osteodysplastic dysplasia, type II Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Defects of tubular bones and spine (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectodermal dysplasia trichoodontoonychial type (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Rhizomelic chondrodysplasia punctata syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Cortical dysplasia with hemimegalencephaly Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Oto-palato-digital syndrome, type II Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Multiple epiphyseal dysplasia due to collagen 9 anomaly (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterized by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance). Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterized by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance). Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Osteoplastic dysplasia Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Eiken syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Mirror hands and feet co-occurrent with nasal defect Associated morphology False Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Dysplasie, spondyloepimetaphysäre, Typ Czarny-Ratajczak Associated morphology False Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Brachytelephalangic chondrodysplasia punctata (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare genetic disease characterized by sclerosing dysplasia affecting the diaphyseal and metaphyseal regions of the long bones, as well as the skull and metacarpals, in association with skin changes like those seen in ichthyosis vulgaris and premature ovarian failure with bilateral hypoplasia of the ovaries. Patients present in adulthood, primarily with swelling of the extremities and occasional mild pain in the legs. Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 5
Richieri Costa-da Silva syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Thin ribs, tubular bones, dysmorphism syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Pelvic dysplasia, arthrogryposis of lower limbs syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
An extremely rare primary bone dysplasia with increased bone density with characteristics of lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae and coronal clefts in vertebral bodies. Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Atypical dentin dysplasia due to SPARC related modular calcium binding 2 deficiency (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Radial deficiency, tibial hypoplasia syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Stickler syndrome type 3 (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), café-au-lait skin spots, and precocious puberty (PP). Associated morphology False Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
Hip dysplasia with enchondromata and ecchondroma syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Exostosis, anetoderma, brachydactyly type E syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Brachyolmia - Maroteaux type (disorder) Associated morphology False Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Brachyrachia (short spine dysplasia) Associated morphology False Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
A relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterised by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood. Associated morphology False Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Brachyolmia (disorder) Associated morphology False Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Genochondromatosis type 2 (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Dysspondyloenchondromatosis (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
cheiro-spondylo-enchondromatose Associated morphology False Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterised 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 Existential restriction modifier (core metadata concept) 3
Short stature Brussels type Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Trichodysplasia with amelogenesis imperfecta syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) Associated morphology False Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Incomplete formation of bony cochlea Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Frank-Ter Haar syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Mondini defect (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare syndrome characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive. Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Cystic testicular dysplasia Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Mixed sclerosing bone dystrophy with extra-skeletal manifestation Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondylometaphyseal dysplasia Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Multicystic renal dysplasia Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterized 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 characterized 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. Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Tricho-oculodermovertebral syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Curly hair, ankyloblepharon, nail dysplasia syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Trichodermodysplasia and dental alterations syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Pili torti onychodysplasia syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Ectodermal dysplasia syndactyly syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
Craniorhiny (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital pulmonary alveolar capillary dysplasia (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
luxation développementale d'une articulation de la région de l'épaule Associated morphology False Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Bilateral multicystic renal dysplasia (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
Trichothiodystrophy (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome musculocontractural type (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Contracture with ectodermal dysplasia and orofacial cleft syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Osteopathia striata, pigmentary dermopathy, white forelock syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Geroderma osteodysplastica Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Thoracic dysplasia and hydrocephalus syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Severe achondrolasia with developmental delay and acanthosis nigricans Associated morphology False Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Stickler syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 6
Autosomal recessive brachyolmia (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Thoracomelic dysplasia Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Cherubism with gingival fibromatosis (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Bilateral secondary renal dysplasia (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Schwere früh-beginnende Adipositas mit Insulin-Resistenz-Syndrom durch SH2B1-Mangel Associated morphology False Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Spondylo-ocular syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
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. Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Reunion Island Larsen-like syndrome Associated morphology False Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Pilodental dysplasia, refractive errors syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Odonto onycho dysplasia with alopecia syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive cutis laxa type 2A Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Developmental dislocation of ankle and/or foot (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Brachydactylous dwarfism Mseleni type Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Maffucci syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 5
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
Menkes kinky-hair syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
Arthrogryposis and ectodermal dysplasia syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects. Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 8
Osteopetrosis hypogammaglobulinemia syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare dysostosis syndrome with characteristics of vertical median craniofacial clefting of fronto-naso-maxillary structures associated with auriculo-mandibular malformations. The syndrome manifests with highly variable craniofacial features which include hypertelorism, eyelid coloboma, orbital dystopia, epibulbar dermoid, nasal anomalies (for example wide nasal bridge, bifid nose, widely separated, slit-like nares, nasal bone dysplasia), auricular and middle ear dysplasia (microtia, aural stenosis, pre-auricular skin tags/pits), cleft lip/palate, mandibular/maxillary hypoplasia and facial asymmetry. Intracranial abnormalities and extra-craniofacial features are frequently associated. Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Syndactyly, polydactyly, ear lobe syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Brittle cornea syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Fibroadenosis of right breast (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Fibroadenosis of left breast (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Occipital dysplasia Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Schwartz-Jampel syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Dentate dysplasia Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1

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