112635002: Congenital malformation (morphologic abnormality)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

183283010 Congenital malformation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

642068012 Congenital malformation (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2848661000005114 Kongenit malformation 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 malformation	Is a	kongenit anomali	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Multipel epifyseal dysplasia tarda, type 3a	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Overtallige rødder	Associated morphology	False	Kongenit malformation	Inferred relationship	Some	2
Multiple malformation syndrome with senile-like appearance	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Trifid tongue	Associated morphology	False	Kongenit malformation	Inferred relationship	Some	1
Femoral hypoplasia - unusual facies syndrome	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Melnick-Needles syndrome	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Lenz-Majewski hyperostosis syndrome	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Aarskog syndrome	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Russell-Silver syndrome	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
A rare X-linked syndromic intellectual disability with characteristics of global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Severe clinical presentation was reported in the first male patients described. Following the wide application of molecular genetic testing, the phenotype is now recognized as very variable. Caused by pathogenic variations in the RPS6KA3 gene (Xp22.2-p22.1), which encodes ribosomal protein S6 kinase alpha-3, a growth-factor-regulated protein kinase. An X-linked dominant disorder, about two-thirds of cases occur de novo. Male offspring inheriting the mutation are affected and female carriers can be unaffected or show milder phenotypes.	Associated morphology	False	Kongenit malformation	Inferred relationship	Some	3
First arch syndrome	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Congenital arteriovenous fistula of kidney	Associated morphology	False	Kongenit malformation	Inferred relationship	Some	1
Anodonti i blivende tænder og primære tænder	Associated morphology	False	Kongenit malformation	Inferred relationship	Some	3
Fibrochondrogenesis is a rare neonatally lethal rhizomelic chondrodysplasia. The face is distinctive with characteristics of protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins has been reported.	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Fetal valproate syndrome	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Fusion of teeth	Associated morphology	False	Kongenit malformation	Inferred relationship	Some	3
Sclerosteosis	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
A rare developmental defect during embryogenesis with characteristics of unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies. NSDHL (Xq28) encodes a protein responsible for cholesterol biosynthesis, mutations are typically lethal in males. X-inactivation creates a mosaic of cells lacking the enzyme in females, disrupting embryonic development and leading to a highly variable spectrum of anomalies. Transmission is X-linked dominant.	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Mohr syndrome	Associated morphology	False	Kongenit malformation	Inferred relationship	Some	1
A supernumerary tooth located near the midline of the dental arch between two central incisors.	Associated morphology	False	Kongenit malformation	Inferred relationship	Some	2
Trichorhinophalangeal syndrome	Associated morphology	False	Kongenit malformation	Inferred relationship	Some	3
Early urethral obstruction sequence	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Schinzel-Giedion syndrome	Associated morphology	False	Kongenit malformation	Inferred relationship	Some	1
Holt-Oram syndrome is the most common form of heart-hand syndrome with characteristics of skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. The clinical picture of covers a wide spectrum of upper extremity defects, always including the radial ray, and cardiac defects. Caused by a mutation in the TBX5 gene located on the long arm of chromosome 12 (12q24.1).	Associated morphology	False	Kongenit malformation	Inferred relationship	Some	1
Cockayne syndrome	Associated morphology	False	Kongenit malformation	Inferred relationship	Some	1
Borjeson-Forssman-Lehmann syndrome	Associated morphology	False	Kongenit malformation	Inferred relationship	Some	1
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Metatropic dysplasia	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Multiple malformation syndrome with facial-limb defects as major feature	Associated morphology	False	Kongenit malformation	Inferred relationship	Some	1
Levy-Hollister syndrome	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Laterality sequence	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Metaphyseal chondrodysplasia, Jansen type	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Townes syndrome	Associated morphology	False	Kongenit malformation	Inferred relationship	Some	1
Congenital cerebral arteriovenous aneurysm	Associated morphology	False	Kongenit malformation	Inferred relationship	Some	1
lymfopenisk agammaglobulinæmi kombineret med dværgvækstsyndrom med korte ekstremiteter	Associated morphology	False	Kongenit malformation	Inferred relationship	Some	3
Dubowitz's syndrome	Associated morphology	False	Kongenit malformation	Inferred relationship	Some	1
Anodontia	Associated morphology	False	Kongenit malformation	Inferred relationship	Some	3
VATER association	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Inherited arthrogryposis	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Melnick-Fraser syndrome	Associated morphology	False	Kongenit malformation	Inferred relationship	Some	1
Meckel-Gruber syndrome	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Schwartz-Jampel syndrome	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Thanatophoric dysplasia	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Klippels sygdom	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Peg-shaped teeth	Associated morphology	False	Kongenit malformation	Inferred relationship	Some	1
Kundrat's syndrome	Associated morphology	False	Kongenit malformation	Inferred relationship	Some	1
Ruvalcaba syndrome	Associated morphology	False	Kongenit malformation	Inferred relationship	Some	1
Holoprosencephaly sequence	Associated morphology	False	Kongenit malformation	Inferred relationship	Some	2
Microglossia	Associated morphology	False	Kongenit malformation	Inferred relationship	Some	3
Marshall syndrome	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Nievergelt's syndrome	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
MVRCS association	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Hanhart's syndrome	Associated morphology	False	Kongenit malformation	Inferred relationship	Some	1
Nager syndrome	Associated morphology	False	Kongenit malformation	Inferred relationship	Some	1
Thalidomide embryopathy syndrome	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Craniometaphyseal dysplasia	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Retinoinsyreembryopati	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Royers syndrom	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Oculodentodigital syndrome	Associated morphology	False	Kongenit malformation	Inferred relationship	Some	2
Fetal warfarin syndrome	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Dolichocephalic dwarfism	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Facio-auriculo-vertebral spectrum (disorder)	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Mietens syndrome	Associated morphology	False	Kongenit malformation	Inferred relationship	Some	1
De Lange syndrome	Associated morphology	False	Kongenit malformation	Inferred relationship	Some	1
Spondyloepifyseal dysplasi, ikke nærmere specificeret	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Langer-Giedion syndrome	Associated morphology	False	Kongenit malformation	Inferred relationship	Some	3
Cerebro-oculo-facio-skeletal syndrome	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Multiple malformation syndrome with limb defect as major feature	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Multiple malformation syndrome, small stature, without skeletal dysplasia	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Kartagener syndrome	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
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 malformation	Inferred relationship	Some	2
Ectopic tooth	Associated morphology	False	Kongenit malformation	Inferred relationship	Some	1
Atelosteogenesis	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Smith-Lemli-Opitz syndrome	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Bloom syndrome	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Rubinstein-Taybi syndrome	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Ruvalcaba-Myhres syndrom	Associated morphology	False	Kongenit malformation	Inferred relationship	Some	1
Robin sequence	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Disorder with characteristics of varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. Clinical manifestations vary within and between families. Frequent clinical manifestations include congenital sensorineural deafness, heterochromic or hypoplastic blue irides, white forelock or early graying of the scalp hair before the age of 30 years. The disease is genetically heterogeneous. To date, mutations in 6 different genes have been identified: PAX3 (2q36.1), MITF (3p14-p13), SNAI2 (8q11.21), SOX10 (22q13.1), EDNRB (13q22.3), and EDN3 (20q13.32).	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Rieger syndrome	Associated morphology	False	Kongenit malformation	Inferred relationship	Some	1
Coloboma, heart defects, choanal atresia, retardation of growth and development, genitourinary problems, ear abnormalities syndrome (disorder)	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Otocephalic syndrome	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Multiple malformation syndrome with early overgrowth	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Roberts-SC phocomelia syndrome	Associated morphology	False	Kongenit malformation	Inferred relationship	Some	2
Duhamel's syndrome	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
FG syndrome	Associated morphology	False	Kongenit malformation	Inferred relationship	Some	1
Osteochondrodysplasia with osteopetrosis	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Grob's syndrome	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Caylers kardiofaciale syndrom	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Werner syndrome	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Cerebro-costo-mandibular syndrome	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Akabane virus disease	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Spondyloepiphyseal dysplasia tarda	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	Associated morphology	False	Kongenit malformation	Inferred relationship	Some	1
Oral-facial-digital syndrome	Associated morphology	False	Kongenit malformation	Inferred relationship	Some	1
Kniest dysplasia	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
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 malformation	Inferred relationship	Some	2
Hay-Wells syndrome of ectodermal dysplasia	Associated morphology	False	Kongenit malformation	Inferred relationship	Some	2
Athyrotic hypothyroidism sequence	Associated morphology	False	Kongenit malformation	Inferred relationship	Some
Bardet-Biedl syndrome	Associated morphology	False	Kongenit malformation	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
183283010	Congenital malformation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
642068012	Congenital malformation (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2848661000005114	Kongenit malformation	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)