276654001: Congenital malformation (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation

\Developmental disorder\Congenital malformation

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital malformation	Is a	Congenital disease	false	Inferred relationship	Some
Congenital malformation	Occurrence	Congenital	false	Inferred relationship	Some
Congenital malformation	Associated morphology	Kongenit malformation	false	Inferred relationship	Some
Congenital malformation	Is a	kongenit anomali	false	Inferred relationship	Some
Congenital malformation	Is a	Congenital disease	true	Inferred relationship	Some
Congenital malformation	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital malformation	Associated morphology	dysgenese	false	Inferred relationship	Some	1
Congenital malformation	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital malformation	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Congenital malformation	Is a	Developmental disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
McCauley operation (procedure)	Has focus	False	Congenital malformation	Inferred relationship	Some	3
sekundær atroplastik til korrektion af kongenit deformitet i hofte	Has focus	False	Congenital malformation	Inferred relationship	Some	2
Metatarsal osteotomy for correction of congenital deformity of foot	Has focus	False	Congenital malformation	Inferred relationship	Some	2
Division of constricting band on limb	Has focus	False	Congenital malformation	Inferred relationship	Some	2
Centralisation carpus correction for radial club hand	Has focus	False	Congenital malformation	Inferred relationship	Some	4
Primary osteotomy of pelvis for correction of congenital deformity of hip	Has focus	False	Congenital malformation	Inferred relationship	Some	2
Release of pantalar joints for correction congenital deformity of foot	Has focus	False	Congenital malformation	Inferred relationship	Some	3
Heyman operation	Has focus	False	Congenital malformation	Inferred relationship	Some	1
Brockman operation	Has focus	False	Congenital malformation	Inferred relationship	Some	1
Osteotomy of body of os calcis for correction congenital deformity of foot	Has focus	False	Congenital malformation	Inferred relationship	Some	4
Repair of persistent cloaca with lengthening of vagina (procedure)	Has focus	False	Congenital malformation	Inferred relationship	Some	3
Correction of congenital deformity of great vessels (procedure)	Has focus	False	Congenital malformation	Inferred relationship	Some	2
Correction of obstetric palsy	Has focus	False	Congenital malformation	Inferred relationship	Some	1
Turco operation	Has focus	False	Congenital malformation	Inferred relationship	Some	3
Correction of congenital absence of radius	Has focus	False	Congenital malformation	Inferred relationship	Some	4
Proximal femoral osteotomy for correction of congenital dislocation of the hip	Has focus	False	Congenital malformation	Inferred relationship	Some	2
Pelvic osteotomy for congenital dislocation of the hip	Has focus	False	Congenital malformation	Inferred relationship	Some	1
Primary correction of congenital deformity of foot	Has focus	False	Congenital malformation	Inferred relationship	Some	3
Medial release of joints of foot for correction of congenital deformity of foot	Has focus	False	Congenital malformation	Inferred relationship	Some	5
Repair of claw toe	Has focus	False	Congenital malformation	Inferred relationship	Some	3
Wedge tarsectomy for correction congenital deformity of foot	Has focus	False	Congenital malformation	Inferred relationship	Some	2
Release of medial soft tissue of hindfoot and excision of lateral wedge of os calcis and fusion of os calcis	Has focus	False	Congenital malformation	Inferred relationship	Some	5
Correction of curly fifth toe	Has focus	False	Congenital malformation	Inferred relationship	Some	1
Correction of clubfoot (procedure)	Has focus	False	Congenital malformation	Inferred relationship	Some	2
Correction of congenital deformity of hindfoot (procedure)	Has focus	False	Congenital malformation	Inferred relationship	Some	3
Korrektion af kongenit deformitet i skulder eller overarm	Has focus	False	Congenital malformation	Inferred relationship	Some	1
Anterior release of joints of foot for correction of congenital deformity of foot	Has focus	False	Congenital malformation	Inferred relationship	Some	1
Correction of congenital deformity of forearm	Has focus	False	Congenital malformation	Inferred relationship	Some	3
Hereditary elliptocytosis	Is a	True	Congenital malformation	Inferred relationship	Some
Mullerian aplasia (disorder)	Is a	True	Congenital malformation	Inferred relationship	Some
Hypopigmentation-immunodeficiency disease	Is a	True	Congenital malformation	Inferred relationship	Some
Situs inversus viscerum	Is a	True	Congenital malformation	Inferred relationship	Some
Chromosome 2q37 deletion syndrome	Is a	True	Congenital malformation	Inferred relationship	Some
Congenital malformation caused by valproic acid	Is a	True	Congenital malformation	Inferred relationship	Some
11p15 duplication syndrome (disorder)	Is a	True	Congenital malformation	Inferred relationship	Some
17q23.1-q23.2 duplication syndrome	Is a	True	Congenital malformation	Inferred relationship	Some
17q24-qter duplication syndrome	Is a	True	Congenital malformation	Inferred relationship	Some
20p12.2 deletion syndrome (disorder)	Is a	True	Congenital malformation	Inferred relationship	Some
3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements.	Is a	True	Congenital malformation	Inferred relationship	Some
5q22.2 deletion syndrome	Is a	False	Congenital malformation	Inferred relationship	Some
9p24.3 deletion syndrome (disorder)	Is a	True	Congenital malformation	Inferred relationship	Some
9q34 deletion syndrome (disorder)	Is a	True	Congenital malformation	Inferred relationship	Some
7p partial monosomy (disorder)	Is a	False	Congenital malformation	Inferred relationship	Some
The association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial, establishing a complementary duplication syndrome. The clinical presentation of patients is extremely variable and shares features with 22q11.2 deletion syndromes including heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal.	Is a	False	Congenital malformation	Inferred relationship	Some
Congenital malformation of lymphatic system of cervicofacial region (disorder)	Is a	True	Congenital malformation	Inferred relationship	Some
Paternal 14q32.2 microdeletion (disorder)	Is a	False	Congenital malformation	Inferred relationship	Some
Pulmonary hypertension due to developmental abnormality (disorder)	Due to	True	Congenital malformation	Inferred relationship	Some	2
Ventriculomegaly due to developmental anomaly	Due to	True	Congenital malformation	Inferred relationship	Some	2
17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas.	Is a	True	Congenital malformation	Inferred relationship	Some
Congenital elephantiasis	Is a	True	Congenital malformation	Inferred relationship	Some
A rare chromosomal anomaly with characteristics of a predominantly neuropsychiatric phenotype with a few dysmorphic features. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported.	Is a	True	Congenital malformation	Inferred relationship	Some
Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (including dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported.	Is a	True	Congenital malformation	Inferred relationship	Some
Chromosome 1p36 deletion syndrome (disorder)	Is a	True	Congenital malformation	Inferred relationship	Some
1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder.	Is a	True	Congenital malformation	Inferred relationship	Some
1q21.1 microdeletion	Is a	True	Congenital malformation	Inferred relationship	Some
A rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal. Most patients have a small supernumerary bi-satellited marker chromosome that results in partial tetrasomy of 22pter-22q11. In one third of cases, this extra chromosome is present in a mosaic state. Other cytogenetic anomalies have been rarely reported, including partial trisomy of chromosome 22 and intrachromosomal triplication of the 22q11 region.	Is a	True	Congenital malformation	Inferred relationship	Some
A chromosome microdeletion syndrome with characteristics of neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.	Is a	True	Congenital malformation	Inferred relationship	Some
Complete trisomy 22 syndrome	Is a	True	Congenital malformation	Inferred relationship	Some
Complete trisomy 21 syndrome	Is a	True	Congenital malformation	Inferred relationship	Some
Complete trisomy 20 syndrome	Is a	True	Congenital malformation	Inferred relationship	Some
Congenital hereditary endothelial dystrophy (disorder)	Is a	True	Congenital malformation	Inferred relationship	Some
Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (including large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported.	Is a	True	Congenital malformation	Inferred relationship	Some
X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.	Is a	True	Congenital malformation	Inferred relationship	Some
The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.	Is a	True	Congenital malformation	Inferred relationship	Some
A rare developmental defect during embryogenesis, a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.	Is a	True	Congenital malformation	Inferred relationship	Some
Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated.	Is a	True	Congenital malformation	Inferred relationship	Some
FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established.	Is a	True	Congenital malformation	Inferred relationship	Some
A rare X-linked syndromic intellectual disability characterized by a variable clinical picture including developmental delay, mild to moderate intellectual disability, learning difficulties, communication deficits, and behavioral problems (such as aggression, attention deficit, hyperactivity, and autistic features). Personality disorder and psychotic behavior have also been reported.	Is a	True	Congenital malformation	Inferred relationship	Some
A partial autosomal monosomy with characteristics of developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies and specific craniofacial features commonly including craniosynostosis.	Is a	True	Congenital malformation	Inferred relationship	Some
7p12-p14 deletion syndrome	Is a	True	Congenital malformation	Inferred relationship	Some
7p21.1 deletion syndrome	Is a	True	Congenital malformation	Inferred relationship	Some
Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression).	Is a	True	Congenital malformation	Inferred relationship	Some
A rare chromosomal anomaly with characteristics of speech and language disorder, predominantly presenting as an apraxia of speech, sometimes associated with oral motor dyspraxia, dysarthria, receptive and expressive language disorder, and hearing loss. Individuals with larger deletions in this region have also been reported to display intellectual disability and autism.	Is a	True	Congenital malformation	Inferred relationship	Some
Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (including prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually occurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia.	Is a	True	Congenital malformation	Inferred relationship	Some
A rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behaviorial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly.	Is a	True	Congenital malformation	Inferred relationship	Some
12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated.	Is a	True	Congenital malformation	Inferred relationship	Some
A rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia).	Is a	True	Congenital malformation	Inferred relationship	Some
15q13.3 microdeletion	Is a	True	Congenital malformation	Inferred relationship	Some
A rare, complex chromosomal duplication/inversion in the region 15q11.2-q13.1 characterized by early central hypotonia, global developmental delay and intellectual deficit, autistic behavior, and seizures.	Is a	True	Congenital malformation	Inferred relationship	Some
15q13.3 microduplication syndrome (disorder)	Is a	True	Congenital malformation	Inferred relationship	Some
The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown.	Is a	True	Congenital malformation	Inferred relationship	Some
A partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects).	Is a	True	Congenital malformation	Inferred relationship	Some
16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.	Is a	True	Congenital malformation	Inferred relationship	Some
Chromosome 16p11.2 deletion syndrome	Is a	True	Congenital malformation	Inferred relationship	Some
Complete trisomy 16 syndrome	Is a	True	Congenital malformation	Inferred relationship	Some
Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life.	Is a	True	Congenital malformation	Inferred relationship	Some
16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies.	Is a	True	Congenital malformation	Inferred relationship	Some
16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behavior, behavioral problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described.	Is a	True	Congenital malformation	Inferred relationship	Some
2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.	Is a	True	Congenital malformation	Inferred relationship	Some
Complete trisomy 18 syndrome	Is a	True	Congenital malformation	Inferred relationship	Some
13q partial monosomy syndrome	Is a	True	Congenital malformation	Inferred relationship	Some
Trisomy 13, meiotic nondisjunction	Is a	True	Congenital malformation	Inferred relationship	Some
Trisomy 13 - mitotic nondisjunction mosaicism	Is a	True	Congenital malformation	Inferred relationship	Some
A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy.	Is a	True	Congenital malformation	Inferred relationship	Some
A rare partial duplication of the long arm of chromosome 17 characterized by a combination of features of 17p11.2 microduplication syndrome and Charcot-Marie-Tooth disease type 1A. Patients present with infantile onset of global developmental delay, hypotonia, feeding difficulties, and failure to thrive, as well as childhood onset of peripheral neuropathy with distal extremity weakness or atrophy, gait impairment, sensory loss, reduced or absent deep tendon reflexes of the ankles, and foot deformities. Facial dysmorphism, cardiac and renal anomalies, and syringomyelia may also be observed.	Is a	True	Congenital malformation	Inferred relationship	Some
Color Doppler ultrasound with spectral display for congenital anomaly	Has focus	True	Congenital malformation	Inferred relationship	Some	2
Congenital anomaly of craniovertebral junction (disorder)	Is a	True	Congenital malformation	Inferred relationship	Some
Correction of congenital anomaly (procedure)	Has focus	True	Congenital malformation	Inferred relationship	Some	2
Situs ambiguus	Is a	True	Congenital malformation	Inferred relationship	Some
Screening for congenital malformation	Has focus	True	Congenital malformation	Inferred relationship	Some	2
Antenatal screening for malformation (procedure)	Has focus	True	Congenital malformation	Inferred relationship	Some	2

Start Previous Page 10 of 11 End

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
412903018	Congenital malformation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
412904012	Fetal malformation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
412905013	CM - Congenital malformation	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
669595015	Congenital malformation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3006530018	Fetal developmental abnormality	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3006540015	Foetal developmental abnormality	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3006559018	Congenital anomaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3006590016	Congenital abnormality	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3011594016	Foetal malformation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5623031000005113	kongenit misdannelse	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)