25723000: Dysplasia (morphologic abnormality)

SNOMED CT Concept\Body structure\Body structure, altered from its original anatomical structure (morphologic abnormality)\Morphologically abnormal structure\...

\Growth alteration\Dysplasia

\Lesion (morphologic abnormality)\Dysplasia

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

2616061000005117 dysplasi da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dysplasia	Is a	Growth alteration	true	Inferred relationship	Some
Dysplasia	Is a	Lesion (morphologic abnormality)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Fronto-malar faciosynostosis	Associated morphology	False	Dysplasia	Inferred relationship	Some	1
Sphenoidal dysostosis	Associated morphology	True	Dysplasia	Inferred relationship	Some	1
Spheno-frontal dysostosis	Associated morphology	True	Dysplasia	Inferred relationship	Some	1
Mandibuloacral dysostosis	Associated morphology	False	Dysplasia	Inferred relationship	Some	1
Dysostosis	Associated morphology	True	Dysplasia	Inferred relationship	Some	1
Kohlschutter's syndrome	Associated morphology	False	Dysplasia	Inferred relationship	Some	1
Dentin dysplasia	Associated morphology	False	Dysplasia	Inferred relationship	Some	1
Dentin dysplasia, type I (disorder)	Associated morphology	True	Dysplasia	Inferred relationship	Some	1
Dentin dysplasia, type II	Associated morphology	False	Dysplasia	Inferred relationship	Some	1
Cystic testicular dysplasia	Associated morphology	False	Dysplasia	Inferred relationship	Some
Cerebrofacial dysplasia	Associated morphology	True	Dysplasia	Inferred relationship	Some	1
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Associated morphology	False	Dysplasia	Inferred relationship	Some	1
Monostotic fibrous dysplasia of periradicular alveolar bone	Associated morphology	False	Dysplasia	Inferred relationship	Some	1
Polydaktyli med neonatal kondrodystrofi, type I	Associated morphology	False	Dysplasia	Inferred relationship	Some	1
Curry-Hall syndrome	Associated morphology	True	Dysplasia	Inferred relationship	Some	1
Trichodental syndrome	Associated morphology	True	Dysplasia	Inferred relationship	Some	1
Laryngoonykokutant syndrom	Associated morphology	False	Dysplasia	Inferred relationship	Some	3
Pyle metaphyseal dysplasia	Associated morphology	True	Dysplasia	Inferred relationship	Some	1
Craniometadiaphyseal dysplasia	Associated morphology	True	Dysplasia	Inferred relationship	Some	1
Idiopathic multicentric osteolysis	Associated morphology	False	Dysplasia	Inferred relationship	Some	1
Geleophysic dysplasia	Associated morphology	True	Dysplasia	Inferred relationship	Some	1
Metaphyseal chondrodysplasia, Schmid type	Associated morphology	True	Dysplasia	Inferred relationship	Some	1
Thanatophoric dysplasia	Associated morphology	True	Dysplasia	Inferred relationship	Some	1
Multipel epifyseal dysplasia tarda, type 3a	Associated morphology	False	Dysplasia	Inferred relationship	Some	1
Polyostotic fibrous dysplasia of bone	Associated morphology	False	Dysplasia	Inferred relationship	Some	2
Craniometaphyseal dysplasia	Associated morphology	True	Dysplasia	Inferred relationship	Some	1
Pulmonary tuberous sclerosis (disorder)	Associated morphology	False	Dysplasia	Inferred relationship	Some	2
Langer mesomelic dysplasia syndrome	Associated morphology	True	Dysplasia	Inferred relationship	Some	1
Tricho-dento-osseous syndrome	Associated morphology	True	Dysplasia	Inferred relationship	Some	1
Ectrodactyly-ectodermal dysplasia-clefting syndrome	Associated morphology	True	Dysplasia	Inferred relationship	Some	2
Multiple dysplasia syndrome	Associated morphology	True	Dysplasia	Inferred relationship	Some	1
Langer-Giedion syndrome	Associated morphology	False	Dysplasia	Inferred relationship	Some	1
Melorheostosis (disorder)	Associated morphology	False	Dysplasia	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia tarda	Associated morphology	True	Dysplasia	Inferred relationship	Some	1
kerubisme	Associated morphology	False	Dysplasia	Inferred relationship	Some	1
Kniest dysplasia	Associated morphology	True	Dysplasia	Inferred relationship	Some	1
erosiv adenomatose i brystvorte	Associated morphology	False	Dysplasia	Inferred relationship	Some	1
Hidrotic ectodermal dysplasia syndrome	Associated morphology	False	Dysplasia	Inferred relationship	Some	1
Autosomal dominant hypophosphatemic rickets	Associated morphology	True	Dysplasia	Inferred relationship	Some	1
Autosomal dominant hypophosphataemic bone disease	Associated morphology	True	Dysplasia	Inferred relationship	Some	1
Autosomal recessive hypophosphatemic bone disease	Associated morphology	False	Dysplasia	Inferred relationship	Some	1
GM1 gangliosidosis	Associated morphology	True	Dysplasia	Inferred relationship	Some	1
Infantile GM1 gangliosidosis	Associated morphology	True	Dysplasia	Inferred relationship	Some	1
Adult GM1 gangliosidosis	Associated morphology	False	Dysplasia	Inferred relationship	Some	1
Hay-Wells syndrome of ectodermal dysplasia	Associated morphology	False	Dysplasia	Inferred relationship	Some	2
A rare hyaline fibromatosis syndrome with characteristics of papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occurring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material.	Associated morphology	False	Dysplasia	Inferred relationship	Some	1
Giant cell fibroblastoma of skin (disorder)	Associated morphology	False	Dysplasia	Inferred relationship	Some	2
Aggressive infantile fibromatosis	Associated morphology	False	Dysplasia	Inferred relationship	Some	1
Juvenile elastofibromatosis	Associated morphology	False	Dysplasia	Inferred relationship	Some	1
Ectodermal dysplasia with hair-tooth-nail-sweating defect (disorder)	Associated morphology	True	Dysplasia	Inferred relationship	Some	1
Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia	Associated morphology	True	Dysplasia	Inferred relationship	Some	1
Anonychia with bizarre flexural pigmentation	Associated morphology	True	Dysplasia	Inferred relationship	Some	1
Ectodermal dysplasia with hair-tooth-nail defects	Associated morphology	True	Dysplasia	Inferred relationship	Some	1
Odonto-onychial dysplasia with alopecia	Associated morphology	False	Dysplasia	Inferred relationship	Some	1
Hypodontia and nail dysgenesis	Associated morphology	False	Dysplasia	Inferred relationship	Some	2
Dwarfism, alopecia, pseudoanodontia, cutis laxa	Associated morphology	True	Dysplasia	Inferred relationship	Some	1
Hypohidrosis-diabetes insipidus syndrome	Associated morphology	False	Dysplasia	Inferred relationship	Some	1
Ectodermal dysplasia with hair-tooth defects	Associated morphology	True	Dysplasia	Inferred relationship	Some	1
Odontotrichomelic syndrome	Associated morphology	False	Dysplasia	Inferred relationship	Some	1
Orofacial-digital syndrome III	Associated morphology	False	Dysplasia	Inferred relationship	Some	2
Orofacial-digital syndrome IV	Associated morphology	False	Dysplasia	Inferred relationship	Some	1
Ectodermal dysplasia with hair-nail defect	Associated morphology	False	Dysplasia	Inferred relationship	Some	1
Kirman syndrome	Associated morphology	True	Dysplasia	Inferred relationship	Some	1
Ectodermal dysplasia with tooth-nail defects	Associated morphology	True	Dysplasia	Inferred relationship	Some	1
Ectodermal dysplasia with tooth-sweating defect	Associated morphology	True	Dysplasia	Inferred relationship	Some	1
Ectodermal dysplasia with nail defect	Associated morphology	True	Dysplasia	Inferred relationship	Some	3
Trifalangeale tommelfingre med onykodystrofi	Associated morphology	False	Dysplasia	Inferred relationship	Some	1
Ectodermal dysplasia with sweating defect	Associated morphology	True	Dysplasia	Inferred relationship	Some	1
Hypohidrosis with neurolabyrinthitis (disorder)	Associated morphology	False	Dysplasia	Inferred relationship	Some	2
Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections	Associated morphology	False	Dysplasia	Inferred relationship	Some	1
Kongenit ektodermal dysplasi af ansigtet	Associated morphology	False	Dysplasia	Inferred relationship	Some	1
Diastrophic dysplasia	Associated morphology	True	Dysplasia	Inferred relationship	Some	1
Multiple epiphyseal dysplasia	Associated morphology	True	Dysplasia	Inferred relationship	Some	1
Hyperphosphatasemia tarda	Associated morphology	False	Dysplasia	Inferred relationship	Some	1
Chondroectodermal dysplasia	Associated morphology	True	Dysplasia	Inferred relationship	Some	1
Frontometaphyseal dysplasia	Associated morphology	True	Dysplasia	Inferred relationship	Some	1
Hajdu-Cheney syndrome	Associated morphology	True	Dysplasia	Inferred relationship	Some	1
Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta (disorder)	Associated morphology	False	Dysplasia	Inferred relationship	Some	1
Osteogenesis imperfecta with blue sclerae AND normal teeth	Associated morphology	True	Dysplasia	Inferred relationship	Some	1
Cleidocranial dysostosis	Associated morphology	False	Dysplasia	Inferred relationship	Some	1
Acrodysostosis	Associated morphology	True	Dysplasia	Inferred relationship	Some	1
Vitamin D-dependent rickets, type 1	Associated morphology	False	Dysplasia	Inferred relationship	Some	1
Vitamin D-dependent rickets	Associated morphology	False	Dysplasia	Inferred relationship	Some	1
Ehlers-Danlos' syndrom, recessiv type 4	Associated morphology	False	Dysplasia	Inferred relationship	Some	1
Osteogenesis imperfecta, dominant perinatal lethal	Associated morphology	True	Dysplasia	Inferred relationship	Some	1
Vitamin D-dependent rickets, type 2	Associated morphology	False	Dysplasia	Inferred relationship	Some	1
Short rib-polydactyly syndrome, Majewski type	Associated morphology	True	Dysplasia	Inferred relationship	Some	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 (localized to 17q24). In rare individuals the disorder is caused by chromosomal recombination (deletion or translocation) involving the region 17q24.	Associated morphology	False	Dysplasia	Inferred relationship	Some	1
Mukolipidose IV	Associated morphology	False	Dysplasia	Inferred relationship	Some	1
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome	Associated morphology	True	Dysplasia	Inferred relationship	Some	1
A rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasia. The disease has characteristics of progressive dwarfism with short trunk, protruding sternum, microcephaly and intellectual disability of varying severity. Caused by mutations of the DYM gene (18q21.1). The large majority of mutations identified in the gene predict a loss of function of its product. DYM is expressed in the majority of tissue and codes for Dymeclin, a protein that interacts with membranes of the Golgi apparatus, but its role within the cell is still unknown. Transmission is autosomal recessive.	Associated morphology	True	Dysplasia	Inferred relationship	Some	1
Multiple exostoses syndrome	Associated morphology	False	Dysplasia	Inferred relationship	Some	1
Achondroplasia	Associated morphology	False	Dysplasia	Inferred relationship	Some	1
Ehlers-Danlos' syndrom, dominant type 4	Associated morphology	False	Dysplasia	Inferred relationship	Some	1
Pyknodysostosis	Associated morphology	True	Dysplasia	Inferred relationship	Some	1
Lethal Kniest-like syndrome	Associated morphology	True	Dysplasia	Inferred relationship	Some	1
Sacral dysgenesis	Associated morphology	False	Dysplasia	Inferred relationship	Some	2
Lumbosacral agenesis	Associated morphology	False	Dysplasia	Inferred relationship	Some	2
Defects of the tubular (and flat) bones and/or axial skeleton	Associated morphology	True	Dysplasia	Inferred relationship	Some	1
Boomerang dysplasia	Associated morphology	True	Dysplasia	Inferred relationship	Some	1
Atelosteogenesis type 2	Associated morphology	True	Dysplasia	Inferred relationship	Some	1

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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
2616061000005117	dysplasi	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)