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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
Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
High bone mass osteogenesis imperfecta Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Larsen-like osseous dysplasia, short stature syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondylometaphyseal dysplasia A4 type (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital dysplasia of cardiac valve (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax. Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Robinson nail dystrophy-deafness syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Ulna fibula ray defect and brachydactyly syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
Ulna fibula ray defect and brachydactyly syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Acropectorovertebral dysplasia Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcephalic osteodysplastic dysplasia, Saul-Wilson type is a skeletal dysplasia characterised by a distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses etc.). Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare autosomal dominant malformation syndrome characterized by hypertelorism, omphalocoele, cleft lip, ear pits, uterine malformation (bicornuate uterus), and more variably by diaphragmatic hernia and congenital heart defects. Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment. Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs. Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Bone dysplasia lethal Holmgren type (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectodermal dysplasia and sensorineural deafness syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Dysspondyloenchondromatosis (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Mesomelic dysplasia Kantaputra type (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Hereditary mucoepithelial dysplasia (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Dysplasia epiphysealis hemimelica (disorder) Associated morphology False Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hip dysplasia with enchondromata and ecchondroma syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Mesomelic dysplasia Savarirayan type (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloenchondromatosis (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Brachydactyly and arterial hypertension syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Osteogenesis imperfecta type I (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
12q14 microdeletion syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Mild spondyloepiphyseal dysplasia with premature onset arthrosis (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Robinow syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
Reinhardt Pfeiffer mesomelic dysplasia Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Short stature Brussels type Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Multiple epiphyseal dysplasia type 5 (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Genochondromatosis (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Acrofacial dysostosis Palagonia type (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Acrofacial dysostosis Palagonia type (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Dysplasia of left kidney Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Polyostotic fibrous dysplasia of bone Associated morphology False Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Epilepsy, microcephaly, skeletal dysplasia syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Coxopodopatellar syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Heart-hand syndrome Slovenian type (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Lethal chondrodysplasia with fragmented bone (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Oro-facial digital syndrome type 13 Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 6
Roifman syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Cleidorhizomelic syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Precocious osteodysplasty (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa Associated morphology False Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Dysplasia of head of femur Meyer type (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Heart-hand syndrome type 2 (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Chondrodysplasia punctata, Conradi-Hünermann type Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterized by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive. Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Spondyloepimetaphyseal dysplasia with multiple dislocations Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hallermann-Streiff syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare primary bone dysplasia characterized by the association of multiple epiphyseal dysplasia with macrocephaly and dysmorphic facial features (such as frontal bossing, hypertelorism, flat malar region, low-set ears, and short neck). Patients are of normal stature and present with joint swelling and genu valgum. Additional reported manifestations include clinodactyly, spindle-shaped fingers, and pectus excavatum. Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked dominant chondrodysplasia punctata of Happle Associated morphology False Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple epiphyseal dysplasia Lowry type Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Conductive deafness, ptosis, skeletal anomalies syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Conductive deafness, ptosis, skeletal anomalies syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Ossification anomaly with psychomotor developmental delay syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Rhizomelic dysplasia of Patterson Lowry type (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modelling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted. Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Clastothrix Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Associated morphology False Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Spondyloepimetaphyseal dysplasia Shohat type (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Exostosis, anetoderma, brachydactyly type E syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare genetic dysostosis disorder with characteristics of brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984. Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities. Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Limb mammary syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Absent radius, anogenital anomalies syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Stern Lubinsky Durrie syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Acroscyphodysplasia (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Cerebrofacial dysplasia (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
3-M syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Czech dysplasia metatarsal type (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos and osteogenesis imperfecta syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Ehlers-Danlos and osteogenesis imperfecta syndrome Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Short stature homeobox related short stature (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Secondary renal dysplasia (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Multiple epiphyseal dysplasia type 1 Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Brachydactyly elbow wrist dysplasia (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Brachydactyly elbow wrist dysplasia (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Coloboma of macula with brachydactyly type B syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
Axial spondylometaphyseal dysplasia (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Ectodermal dysplasia with hair-nail defect Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 3
X-linked calvarial hyperostosis Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Jeune thoracic dystrophy (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypomandibular faciocranial dysostosis is a cranial malformation characterised by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis. Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Patterson Stevenson Fontaine syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Patterson Stevenson Fontaine syndrome (disorder) Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial osteodysplasia Anderson type Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
Familial osteodysplasia Anderson type Associated morphology True Dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1

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