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
Craniometaphyseal dysplasia	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Langer mesomelic dysplasia syndrome	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Spondyloepifyseal dysplasi, ikke nærmere specificeret	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Langer-Giedion syndrome	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Leri's pleonosteosis syndrome	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Ehlers-Danlos' syndrom, prokollagenproteinaseresistent	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
A type of pseudohypoparathyroidism with characteristics of resistance to parathyroid hormone (PTH), which manifests with hypocalcaemia, hyperphosphataemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy and normal expression of the Gs protein with a normal urinary cAMP response. To date no specific genetic alteration responsible for this disorder has been detected. It has been hypothesised that in most cases it may be an acquired defect secondary to vitamin D deficiency such as in misdiagnosed secondary renal hyperparathyroidism.	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
A severe form of otopalatodigital syndrome spectrum disorder with characteristics of dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system and intestine) and poor survival. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation are less severely affected.	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	3
Achondrogenesis, type IA	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Atelosteogenesis	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Melorheostosis (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Feline osteogenesis imperfecta	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Madelung's deformity	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Maffucci syndrome	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Osteochondrodysplasia with osteopetrosis	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Beals auriculo-osteodysplasia syndrome	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Periodontal Ehlers-Danlos syndrome (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia tarda	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
kerubisme	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	3
Kniest dysplasia	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
The mildest form of otopalatodigital syndrome spectrum disorder, characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation have a broad range of phenotypic expression.	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Osteogenesis imperfecta with progressive deformity AND normal sclerae	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
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	1
Arthrochalasia Ehlers-Danlos syndrome (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
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	1
Juvenile fucosidosis	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Rhizomelic chondrodysplasia punctata syndrome	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Mannosidosis, type II	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Diastrophic dysplasia	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Pseudohypoparathyroidism type I A	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Menkes kinky-hair syndrome	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Cutis laxa, x-linked	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Multiple epiphyseal dysplasia	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Hyperphosphatasemia tarda	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Dermatofibrosis lenticularis disseminata	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	3
Infantile fucosidosis (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Mannosidosis, type I	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Chondroectodermal dysplasia	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Multiple synostosis syndrome	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Frontometaphyseal dysplasia	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Antley-Bixler syndrome	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Hajdu-Cheney syndrome	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Larsen syndrome	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Accessory ossification center	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Brachydactyly syndrome type E	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Osteogenesis imperfecta with blue sclerae AND normal teeth	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
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	1
Mannosidosis (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Pseudo-Hurler polydystrophy	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Cleidocranial dysostosis	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Miller syndrome	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Acrodysostosis	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	3
Vitamin D-dependent rickets, type 1	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
X-linked Ehlers-Danlos syndrome	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Vitamin D-dependent rickets	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
I-cell disease	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Ehlers-Danlos' syndrom, recessiv type 4	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Familial articular hypermobility syndrome (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Osteogenesis imperfecta, dominant perinatal lethal	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Vitamin D-dependent rickets, type 2	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Short rib-polydactyly syndrome, Majewski type	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
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	kongenit dysplasi	Inferred relationship	Some	1
A short-rib dysplasia with characteristics of narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes. In rare cases, postaxial polydactyly may also be present. The narrow thorax may cause neonatal respiratory failure, and may be associated with persistent respiratory manifestations. The growth rate is variable but may be almost normal. Intellectual development is normal. The molecular basis of the syndrome has been partially elucidated indicating involvement of the IFT80 (3q25.33), DYNC2H1 (11q22.3), WDR19 (4p14) and TTC21B (2q24.3) genes, each encoding an intraflagellar transport protein. The syndrome is transmitted as an autosomal recessive trait.	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
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	1
Hyperphosphatasia-osteoectasia syndrome	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Metaphyseal chondrodysplasia, McKusick type	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Grebe syndrome	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Osteogenesis imperfecta	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Stickler syndrome	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Familial x-linked hypophosphatemic vitamin D refractory rickets	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Osteopathia striata	Associated morphology	False	kongenit dysplasi	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	False	kongenit dysplasi	Inferred relationship	Some	1
Progressive myositis ossificans	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Ehlers-Danlos' syndrom, type 1	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Ehlers-Danlos syndrome, dysfibronectinemic	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Chondrodystrophia malacia	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Multiple exostoses syndrome	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Achondroplasia	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Osteogenesis imperfecta, recessive perinatal lethal	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Ehlers-Danlos' syndrom, dominant type 4	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Salla disease	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Hyperplastisk kondrodystrofi	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Shwachman syndrome	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Pyknodysostosis	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Osteopoikilosis	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Lethal Kniest-like syndrome	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Rolland-Debuqois syndrome	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Hyperphosphatasemia with bone disease	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Paralytic calcification / ossification of muscle	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Chondrodysplasia	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Lethal retarded ossification syndromes	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Short rib polydactyly syndrome	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Chondrodysplasia punctata	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Kondrodysplasi, specificeret på anden måde	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Osteodysplasi	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Osteogenesis imperfecta - unclassifiable	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Hypophosphataemic rickets with nephrotic-glycosuric dwarfism	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Multiple exostosis syndromes	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Osteokondrodysplasi	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Multiple congenital exostosis	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1

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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)