FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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
1080891000241117 dysplasie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

38 descendants. Search Descendants:

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
A genetically heterogeneous autosomal recessive syndrome characterised by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia. Associated morphology False Dysplasia Inferred relationship Some 1
Dentin dysplasia Associated morphology False Dysplasia Inferred relationship Some 1
Dentin dysplasia, type I Associated morphology True Dysplasia Inferred relationship Some 1
Dentin dysplasia, type II Associated morphology False Dysplasia Inferred relationship Some 1
Cystic testicular dysplasia (disorder) 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
Short rib-polydactyly syndrome, non-Majewski type 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
Laryngo-onychocutaneous syndrome 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
Multiple epiphyseal dysplasia tarda type IIIa 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 Associated morphology False Dysplasia Inferred relationship Some 1
Spondyloepiphyseal dysplasia tarda Associated morphology True Dysplasia Inferred relationship Some 1
Cherubism Associated morphology False Dysplasia Inferred relationship Some 1
Kniest dysplasia Associated morphology True Dysplasia Inferred relationship Some 1
Erosive adenomatosis of nipple 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 (disorder) Associated morphology False Dysplasia Inferred relationship Some 1
Ectodermal dysplasia with hair-tooth-nail-sweating defect 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 (disorder) 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 (disorder) 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
Triphalangeal thumbs with onychodystrophy Associated morphology False Dysplasia Inferred relationship Some 1
Ectodermal dysplasia with sweating defect (disorder) Associated morphology True Dysplasia Inferred relationship Some 1
Hypohidrosis with neurolabyrinthitis 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
Congenital ectodermal dysplasia of face 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 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 syndrome, recessive 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 characterized by peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible in individuals with a male karyotype. Associated morphology False Dysplasia Inferred relationship Some 1
Ganglioside sialidase deficiency Associated morphology False Dysplasia Inferred relationship Some 1
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome Associated morphology True Dysplasia Inferred relationship Some 1
A rare, genetic primary bone dysplasia of the spondylo-epi-metaphyseal dysplasia (SEMD) group characterized by progressive short-trunked dwarfism, protruding sternum, microcephaly, intellectual disability and pathognomonic radiological findings (generalized platyspondyly with double-humped end plates, irregularly ossified femoral heads, a hypoplastic odontoid, and a lace-like appearance of iliac crests). 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 syndrome, 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 (disorder) 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

Start Page 2 of 16 Next End

This concept is not in any reference sets

Back to Start