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:

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

4120811000005110 kongenit 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
kongenit dysplasi	Is a	kongenit anomali	false	Inferred relationship	Some
kongenit dysplasi	Is a	Dysplasia	false	Inferred relationship	Some
kongenit dysplasi	Is a	Kongenit malformation	false	Inferred relationship	Some
kongenit dysplasi	Is a	dysgenese	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Epiphyseal dysplasia	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Dysplasia with increased bone density	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Acromesomelic dysplasia syndrome	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Madelung's deformity	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	3
Chondrodysplasia punctata, X-linked recessive type	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
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	False	kongenit dysplasi	Inferred relationship	Some	2
Osteodysplastic dysplasia, type II (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Familial x-linked hypophosphatemic vitamin D refractory rickets	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Torg type osteolysis	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Adult GM1 gangliosidosis	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Chondrodysplasia	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Enchondromatosis (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Spondyloenchondromatosis with basal ganglia calcification (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Lethal retarded ossification syndromes	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Grebe syndrome	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Frontometaphyseal dysplasia	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Spondyloepimetafyseal dysplasi med løshed i led	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Osteopoikilosis	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
An autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group. Clinical signs include slowly developing intellectual disability beginning with clumsiness, late speech, and hyperkinesia, mild facial dysmorphism, and slight kyphoscoliosis. Caused by mutations in gene AGU located on 4q34.3. Transmission is autosomal recessive.	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Thanatophoric dysplasia	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Thanatophoric dysplasia, type 2 (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Rolland-Debuqois syndrome	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Hyperphosphatasemia tarda	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	3
Spondylodysplasia	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Bruck syndrome	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Naso-maxillary dysostosis	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Sclerosteosis	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Osteoporosis with pseudoglioma	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
A rare genetic syndrome with characteristics of limb shortening and abnormalities of the head, face and external genitalia. Two forms of the syndrome with different patterns of inheritance and variable frequency of clinical signs have been described: a milder autosomal dominant form and a more severe autosomal recessive form. The syndrome has a wide clinical spectrum. Transmission is autosomal dominant or recessive.	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
A type of pseudohypoparathyroidism with characteristics of localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance. Severity of symptoms can vary greatly between patients and even among kindreds. The majority of cases are sporadic, but an autosomal dominant transmission has also been described. About 70% of patients display methylation defects, sporadic or genetic-based, at GNAS (20q13.2-q13.3) differentially methylated regions (DMRs).	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Achondrogenesis, type IB	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Multiple synostosis syndrome	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Juvenile GM1 gangliosidosis	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Mikrocefalisk osteodysplastisk dysplasi	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	3
Osteomesopyknose	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Acromesomelic dysplasia Hunter-Thompson type (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Cranioectodermal dysplasia	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Dysplasia with decreased bone density	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Metaphyseal chondrodysplasia, Schmid type	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Kniest-Stickler dysplasia	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Osteochondrodysplasia with osteopetrosis	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Spondyloepiphyseal dysplasia congenita	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Osteodysplastic dysplasia, type I (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Greig cephalopolysyndactyly syndrome	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Osteogenesis imperfecta, perinatal lethal	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Endosteal hyperostoses (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
I-cell disease	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Multiple dislocations with dysplasia	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Acromicric dysplasia	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Lethal chondrodysplasia with fragmented bone (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Maxillary dysostosis (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	3
Metafyseal kondrodysplasi, McKusick-type, med associeret immundefekt	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	3
Temporo-aural dysostosis	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Skeletal dysplasia	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Osteogenesis imperfecta type IIB presents with normal or thin ribs with some fractures, discontinuous beaded ribs and some under-modeling of the femur. The disease is either autosomal dominant or autosomal recessive depending on the gene involved. Autosomal dominant cases occur either sporadically or due to germline mosaicism.	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Disorganised development of cartilaginous and fibrous components of the skeleton	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Dysplasia with defective mineralization	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Idiopathic osteolyses	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Osteosclerosis - Stanescu type	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Intermandibular dysostosis	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	3
A very rare benign bone disorder with characteristics of bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content. The disease may be underdiagnosed due to confusion with autosomal dominant osteopetrosis. The condition is usually found incidentally on radiological examination and is very mild, sometimes accompanied by pain. Increased density of the vertebral plates, pelvis and occasionally of the upper femur have been reported, as well as kyphoscoliosis and femoral cysts.	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Autosomal dominant hypophosphatemic rickets	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Achondrogenesis (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Metaphyseal chondrodysplasia, McKusick type	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	3
Spondyloepimetaphyseal disorder	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Multiple epiphyseal dysplasia	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Pseudohypoparathyroidism type I A	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Greenberg dysplasia (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Kyphomelic dysplasia	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Mesomelic dysplasia (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Cole-Carpenter dysplasia (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Hyperphosphatasemia with bone disease	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	3
A rare disorder characterised by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anaemia. The exact prevalence is unknown. Associated with mutations in the TBXAS1 gene (which encodes thromboxane synthase). Transmitted as an autosomal recessive trait.	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Spondyloenchondromatosis (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Winchester syndrome	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
GM1 gangliosidosis	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Maffucci syndrome	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	3
X-bundet dominant chondrodysplasia punctata	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	3
Autosomal dominant hypophosphataemic bone disease	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Multiple congenital exostosis	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Infantile fucosidosis (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Lethal Kniest-like syndrome	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Salla disease	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Astley-Kendall dysplasia (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Juvenile fucosidosis (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Pseudo-Hurler polydystrophy	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Oculodento-osseous dysplasia	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Melnick-Needles syndrome	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Progressive pseudorheumatoid dysplasia	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Wolcott-Rallison dysplasia (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Type IV short rib polydactyly syndrome	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Fucosidosis is an extremely rare lysosomal storage disorder with characteristics of a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Mannosidosis, type I	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Frontal dysostosis	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
A very rare lysosomal storage disease with characteristics of developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Osteogenesis imperfecta type III (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Metatropic dysplasia	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
præmaksillomaksillær dystostose	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Langer mesomelic dysplasia syndrome	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Osteogenesis imperfecta, dominant perinatal lethal	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Osteoplastic dysplasia (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2

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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
4120811000005110	kongenit dysplasi	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)