25283002: Congenital dysplasia (morphologic abnormality)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital dysplasia	Is a	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dysplasia	Is a	Dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dysplasia	Is a	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital dysplasia	Is a	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Acrofacial dysostosis Kennedy Teebi type (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Robinson nail dystrophy-deafness syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Metaphyseal dysplasia Braun Tinschert type (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Exostosis, anetoderma, brachydactyly type E syndrome (disorder)	Associated morphology	False	Congenital 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	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hidrotic ectodermal dysplasia Halal type (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Bilateral secondary renal dysplasia (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Bilateral secondary renal dysplasia (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Osteochondrodysplasia co-occurrent with defects of growth of tubular bones and spine (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Progressive diaphyseal dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acrofrontofacionasal dysostosis type 2	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acrofrontofacionasal dysostosis type 2	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hip dysplasia Beukes type (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hip dysplasia Beukes type (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Schimke immuno-osseous dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Karsch-Neugebauer syndrome is a rare syndrome characterised by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus.	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Mesomelic dysplasia Savarirayan type (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acrofacial dysostosis Palagonia type (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Reinhardt Pfeiffer mesomelic dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Atelosteogenesis type 1	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spondyloepiphyseal dysplasia tarda Kohn type (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mitral leaflet dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spondylo-ocular syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Blepharocheilodontic syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Atelosteogenesis type 3 (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A rare genetic disease characterized by sensorineural hearing loss, abnormalities in the secondary dentition (such as enamel hypoplasia, taurodontism, or dental overcrowding), and nail abnormalities (including leukonychia and presence of transverse ridges). Association with macular dystrophy has also been reported.	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation.	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Short rib-polydactyly syndrome, Majewski type	Associated morphology	False	Congenital 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	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ehlers-Danlos syndrome cardiac valvular type	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly. Prevalence is estimated at less than one in one million people. Intelligence is usually normal. The syndrome is caused by a mutation in the TRPV4 gene (12q24.1) and is transmitted in an autosomal dominant manner.	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ehlers-Danlos syndrome kyphoscoliotic and deafness type	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Ehlers-Danlos syndrome kyphoscoliotic and deafness type	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spondyloepiphyseal dysplasia Cantu type	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Book syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Pai syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Epilepsy, microcephaly, skeletal dysplasia syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Ehlers-Danlos and osteogenesis imperfecta syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ehlers-Danlos and osteogenesis imperfecta syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acrofacial dysostosis Rodriguez type (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Bone dysplasia Azouz type	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mitral valve dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested.	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ehlers-Danlos syndrome progeroid type	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ehlers-Danlos syndrome progeroid type	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ehlers-Danlos syndrome kyphoscoliotic type	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Oculootoradial syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Scypho-patellar dysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Coxoauricular syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A rare primary bone dysplasia due to matrilin-3 variants and characterised by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
syndrome d'Ehlers-Danlos type vasculaire-like	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dyschondrosteose - Nephritis	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Patterson Stevenson Fontaine syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Epiphyseal dysplasia, microcephalus, nystagmus syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Bone dysplasia lethal Holmgren type (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brittle cornea syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Smith McCort dysplasia (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysspondyloenchondromatosis (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
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	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Czech dysplasia metatarsal type (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cerebro-facio-thoracic dysplasia (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Spondyloenchondrodysplasia with immune dysregulation (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Johnson neuroectodermal syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Periodontitis co-occurrent with Ehlers-Danlos syndrome type 4	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ulna fibula ray defect and brachydactyly syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Dermatofibrosis lenticularis disseminata	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Anonychia with bizarre flexural pigmentation	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	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 (localised to 17q24). In rare individuals the disorder is caused by chromosomal recombination (deletion or translocation) involving the region 17q24.	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Frontonasal dysplasia sequence	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive popliteal pterygium syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Robinow-like syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Contracture with ectodermal dysplasia and orofacial cleft syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Craniolenticulosutural dysplasia (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
syndrome de Moynahan	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A rare syndrome characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992.	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Short stature Brussels type	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Chondrodysplasia with disorder of sex development syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Oculotrichodysplasia	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dacryocystitis and osteopoikilosis syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Acrofrontofacionasal dysostosis type 2	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
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	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	3
syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hidrotic ectodermal dysplasia syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Limb mammary syndrome	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Doughnut lesion of calvaria and bone fragility syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Ehlers-Danlos syndrome musculocontractural type (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Coloboma of macula with brachydactyly type B syndrome (disorder)	Associated morphology	False	Congenital dysplasia	Inferred relationship	Existential restriction modifier (core metadata concept)	1

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Reference Sets

Concept inactivation indicator attribute value reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
42393010	Congenital dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
755582019	Congenital dysplasia (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
42393010	Congenital dysplasia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
42393010	Congenital dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
755582019	Congenital dysplasia (morphologic abnormality)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
755582019	Congenital dysplasia (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core