49755003: Morphologically abnormal structure (morphologic abnormality)

SNOMED CT Concept\Body structure\Body structure, altered from its original anatomical structure (morphologic abnormality)\Morphologically abnormal structure

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Morphologically abnormal structure	Is a	Body structure, altered from its original anatomical structure (morphologic abnormality)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Surgically constructed interatrial communication	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Venous beading of left retina due to diabetes mellitus	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Venous beading of right retina due to diabetes mellitus	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Interfrontal craniofaciosynostosis	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Cervical spina bifida without hydrocephalus - open	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Dens in dente	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital abnormality of middle cardiac vein (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Systemic to pulmonary collateral artery from left renal artery (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Systemic to pulmonary collateral artery from left renal artery (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital malformation of genital organs	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Type 1 lissencephaly	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Cohen syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of nervous system	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Faun tail syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of epididymis	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Systemic to pulmonary collateral artery connecting with tracheobronchial arteries	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Systemic to pulmonary collateral artery connecting with tracheobronchial arteries	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Branchiooculofacial syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Neurofibromatosis type 1	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Neurofibromatosis type 1	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	3
Central nervous system malformation in fetus affecting obstetrical care (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital abnormality of external ear	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Duchenne muscular dystrophy	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Persistent common pulmonary vein (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Penile shaft hypospadias (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (including facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Lissencephaly	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of inner ear	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
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	True	Morphologically abnormal structure	Inferred relationship	Some	3
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	True	Morphologically abnormal structure	Inferred relationship	Some	1
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	True	Morphologically abnormal structure	Inferred relationship	Some	2
Bicuspid truncal valve (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of tracheal cartilage	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Dual coronary orifice	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Dual coronary orifice	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital abnormality of atrioventricular valve leaflet in atrioventricular septal defect (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Cutis laxa, autosomal recessive (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Kirman syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Pachyonychia congenita syndrome	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	3
A rare syndromic craniosynostosis malformation syndrome characterized by intrauterine growth retardation, under ossification of the skull with large fontanels, short limbs with absent phalanges, and finger and toe syndactyly. Reported dysmorphic features include a narrow face with small palpebral fissures, small, pointed nose, microstomia, micrognathia, and low-set and posteriorly rotated ears. A posterior encephalocele and other congenital malformations can also be observed.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital malformation of ovaries and fallopian tubes	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital malformation of ovaries and fallopian tubes	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Congenital malformation of ovaries and fallopian tubes	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterized by the association of intractable diarrhea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhea of infancy described previously.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Congenital small optic disc with normal visual function	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare multiple congenital malformation syndrome with characteristics of blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. Abnormal ears, microcephaly, and growth retardation have been reported occasionally. Male patients may show cryptorchidism and scrotal hypoplasia. Most reported cases are sporadic, except the original cases of Ohdo who described two affected sisters and a first cousin, suggesting autosomal recessive inheritance. Autosomal dominant, X-linked- and mitochondrial inheritance have also been suggested.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Lack of ossification of squamosal bone	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
VACTEL syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
mirror hands	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
mirror hands	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Subpulmonary infundibulum	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Oculodentodigital syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Oculodentodigital syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
A rare autosomal recessive cerebellar ataxia characterized by early onset of non- or slowly progressive cerebellar signs and symptoms including truncal and gait ataxia, dysarthria, dysmetria, dysdiadochokinesis, tremor, and nystagmus. Delayed psychomotor development and intellectual disability are variable. Additional reported features are spasticity, hypotonia, cataracts, and sensorineural hearing loss, among others. Brain imaging shows cerebellar atrophy.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Tuberous sclerosis syndrome	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Tuberous sclerosis syndrome	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital extrahepatic portal-systemic shunt	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Midline cervical cleft (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare contiguous gene syndrome involving a partial deletion of chromosome 16 and characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system).	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	3
Congenital anomaly of pubis	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Cyst of hydatid of Morgagni	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
kongenit uterusabnormitet, der komplicerer post partum-behandling og -pleje, barn født under tidligere behandling	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Septoparietal trabeculations	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	4
A rare ectodermal dysplasia syndrome characterized by the association of amelogenesis imperfecta and trichodysplasia with symmetrical pits in the cuticles of hair shafts. There have been no further descriptions in the literature since 1993.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
A rare ectodermal dysplasia syndrome characterized by the association of amelogenesis imperfecta and trichodysplasia with symmetrical pits in the cuticles of hair shafts. There have been no further descriptions in the literature since 1993.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Ectodermal dysplasia with nail defect	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
mellemøreanomali, eksklusive ossiklerne	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of spinal cord	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital commissural pits	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Dilatation of tricuspid annulus	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Dilatation of tricuspid annulus	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Penile mid-shaft hypospadias (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Combined malformation of central nervous system and skeletal muscle (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Combined malformation of central nervous system and skeletal muscle (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Miller Dieker syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Syringomyelobulbi	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Elephantiasis neurofibromatosa (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Elephantiasis neurofibromatosa (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Amelogenesis imperfecta	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of foot	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Aarskog syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
dobbelt ureter	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of breast	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Systemic to pulmonary collateral artery from abdominal aorta (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Systemic to pulmonary collateral artery from abdominal aorta (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Duane's syndrome of right eye	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Duane's syndrome of right eye	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of aorta	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare congenital cardiac malformation that is a variant of an atrioventricular septal defect (AVSD) with an interatrial communication (ostium primum defect) just above the common atrioventricular (AV) valve, no interventricular communication just below the atrioventricular valve, a common atrioventricular junction but separate right and left atrioventricular valvar orifices, and a three-leaflet, left-sided component of the common atrioventricular valve (cleft). Shunting is restricted to the atrial level because of fusion of the leaflets of the common AV valve with the crest of the ventricular septum.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
A rare congenital cardiac malformation that is a variant of an atrioventricular septal defect (AVSD) with an interatrial communication (ostium primum defect) just above the common atrioventricular (AV) valve, no interventricular communication just below the atrioventricular valve, a common atrioventricular junction but separate right and left atrioventricular valvar orifices, and a three-leaflet, left-sided component of the common atrioventricular valve (cleft). Shunting is restricted to the atrial level because of fusion of the leaflets of the common AV valve with the crest of the ventricular septum.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital thoracostenosis	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2

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Id	Description	Lang	Type	Status	Case?	Module
82877014	Abnormal tissue appearance	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
495494014	Morphologically abnormal structure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
787468010	Morphologically abnormal structure (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2815351000005115	morfologisk abnorm struktur	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)