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
Wolcott-Rallison dysplasia (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Wolcott-Rallison dysplasia (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Multipel epifyseal dysplasia tarda, type 3a	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Multipel epifyseal dysplasia tarda, type 3a	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Multiple epiphyseal dysplasia	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Multiple epiphyseal dysplasia	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Multipel epifyseal dysplasi, ikke nærmere specificeret	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Multipel epifyseal dysplasi, ikke nærmere specificeret	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
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
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	1
Otomandibular dysostosis	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Otomandibular dysostosis	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Intermandibular dysostosis	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Intermandibular dysostosis	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Zygo-auromandibulær dysostose	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Zygo-auromandibulær dysostose	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Corneafragilitet, keratoglobus, blå sklera og hypermobile led	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Corneafragilitet, keratoglobus, blå sklera og hypermobile led	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Periodontal Ehlers-Danlos syndrome (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Periodontal Ehlers-Danlos syndrome (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Wolcott-Rallison dysplasia (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Wolcott-Rallison dysplasia (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Multipel epifyseal dysplasia tarda, type 3a	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Multipel epifyseal dysplasia tarda, type 3a	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Multiple epiphyseal dysplasia	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Multiple epiphyseal dysplasia	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Multipel epifyseal dysplasi, ikke nærmere specificeret	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Multipel epifyseal dysplasi, ikke nærmere specificeret	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
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	1
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	1
Otomandibular dysostosis	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Otomandibular dysostosis	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Intermandibular dysostosis	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Intermandibular dysostosis	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Zygo-auromandibulær dysostose	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Zygo-auromandibulær dysostose	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Corneafragilitet, keratoglobus, blå sklera og hypermobile led	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Corneafragilitet, keratoglobus, blå sklera og hypermobile led	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	3
Periodontal Ehlers-Danlos syndrome (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Periodontal Ehlers-Danlos syndrome (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Baller-Gerold syndrome	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Frontal dysostosis	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Temporo-auro-mandibular dysostosis	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Temporo-aural dysostosis	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Internasal dysostosis	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Sphenoidal dysostosis	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Antley-Bixler syndrome	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
Bilateral renal dysplasia	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Bilateral renal dysplasia	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Cerebellar cortical dysplasia (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Spondyloenchondrodysplasia	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Miller syndrome	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Mild spondyloepiphyseal dysplasia with premature onset arthrosis (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Kondrodysplasi, specificeret på anden måde	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
nyredysplasi, ikke nærmere specificeret	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Precocious osteodysplasty (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Ehlers-Danlos' syndrom, recessiv type 4	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Hypoplastic chondrodystrophy	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Johanson-Blizzard syndrome	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Ectodermal dysplasia	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Stickler syndrome	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Ectodermal dysplasia with tooth-nail-sweating defect (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Shell teeth	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Lethal retarded ossification syndromes	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Uhl's disease	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Osteogenesis imperfecta type I (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
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	1
Unilateral renal dysplasi	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Osteogenesis imperfecta, type IV A	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Pachyonychia congenita type III of Schafer-Brunauer (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Moynahans syndrom	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Ehlers-Danlos' syndrom, ikke-hydroxylysinfattig okulær type	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Acromesomelic dysplasia Hunter-Thompson type (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Juvenile fucosidosis (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Brachydactyly syndrome type C (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Brachydactyly syndrome type B (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Short rib polydactyly syndrome	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Yunis-Varon dysplasia (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Chondrodysplasia punctata, MT type	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Pachyonychia congenita type II of Jackson-Lawler (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	2
Chondrodysplasia	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Lenz-Majewski hyperostosis syndrome	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
Schinzel-Giedion syndrome	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
Spondyloepimetaphyseal disorder	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Wolcott-Rallison dysplasia (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
kongenit chondrodysplasia punctata	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
I-cell disease	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Osteogenesis imperfecta type III (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Autosomal recessiv spondyloepimetafyseal dysplasi	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Omodysplasi I	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Immuno-osseous dysplasia	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Atelosteogenesis type 2	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
Anden specificeret osteodysplasi	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Menkes kinky-hair syndrome	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
Multiple congenital exostosis	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1
Brachyolmia - Maroteaux type (disorder)	Associated morphology	False	kongenit dysplasi	Inferred relationship	Some	1

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Reference Sets

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