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
Uniatrial biventricular connection with absent right sided atrioventricular connection with straddling valve (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Spina bifida aperta of thoracic spine (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Mohr syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Mohr syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Mohr syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	4
Smith Fineman Myers syndrome	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Smith Fineman Myers syndrome	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterized by intellectual deficiency and seizures that are more severe in male patients.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Weaver syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Duane syndrome with vertical deviation (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Duane syndrome with vertical deviation (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Cutis gyrata syndrome of Beare and Stevenson	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Bilateral bilobed lungs due to isomerism of left lung (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, café-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	5
Congenital stricture of osseous meatus	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Cutaneous capillary malformation (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of anus	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Café au lait-pletter uden neurofibromatose	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Café au lait-pletter uden neurofibromatose	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. There have been no further descriptions in the literature since 1984.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Verrucous hemangioma of skin	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Vascular loops of inner ear	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Ebstein-like downward displacement of mitral valve	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Ebstein-like downward displacement of mitral valve	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
A rare maternal disease-related embryofetopathy characterized by variable developmental anomalies of the fetus due to teratogenic effect of elevated maternal body temperature (resulting from febrile illness or hot environment exposure). Reported developmental anomalies include neural tube defects (spina bifida, encephalocele, anencephaly), cardiac defects (transposition of great vessels), urogenital defects (hypospadias), abdominal wall defects, cleft lip/palate, eye defects (cataract, coloboma) or various minor anomalies (e.g., bifid uvula, preauricular pit or tag). Consensus regarding cause-effect relationship has not been reached.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterized by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Sarcotubular myopathy	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Double inlet right ventricle	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital malformation of autonomic nervous system (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Bosley-Salih-Alorainy syndrome (BSAS) is characterised by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Neurofaciodigitorenal syndrome is a rare multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Neurofaciodigitorenal syndrome is a rare multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Neurofaciodigitorenal syndrome is a rare multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Pili annulati	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital woolly hair	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Seckel syndrome	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Seckel syndrome	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital anomaly of digit (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital cleft of thymus	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital vascular malformation due to inherited syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Major systemic to pulmonary collateral artery with pulmonary artery proximal to hilar bifurcation (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Major systemic to pulmonary collateral artery with pulmonary artery proximal to hilar bifurcation (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Rubinstein-Taybi syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Cordate pelvis	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Thoracic spina bifida with hydrocephalus - open	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	4
Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Hand-foot-genital syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Hand-foot-genital syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital anomaly of alisphenoid bone	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of abdominal aorta (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare syndrome characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive.	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	3
Hutterite type of muscular dystrophy	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Manus cava	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
A rare inclusion myopathy characterized by hypotonia and axial muscle weakness leading to spinal rigidity and development of scoliosis and other deformities which can result in respiratory failure. The symptoms are apparent from birth or early childhood. The muscle weakness is not progressive, and most patients remain ambulatory. Muscle biopsies show variable myopathic changes.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Lack of ossification of tarsal bone	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital abnormality of tricuspid leaflet (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare orofaciodigital syndrome characterised by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
A rare orofaciodigital syndrome characterised by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
A rare orofaciodigital syndrome characterised by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	4
Congenital anomaly of trachea	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital deformity of left lower limb (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Hemimyelocele	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
hemicentrisk centrum i brysthvirvels corpus vertebrae	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital abnormality of lower limb and pelvic girdle	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Situs inversus viscerum	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Cutaneous lesion resulting from spina bifida (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of back	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of penis	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital non-progressive ataxia	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Dentinogenesis imperfecta - Shield's type II	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of sternebra	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Lack of ossification of basisphenoid bone	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
A very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
A very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
A rare teratogenic disorder due to acitretin or etretinate exposure during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Spondylocarpotarsal synostosis syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Total anomalous pulmonary venous connection of infracardiac type (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Spina bifida without hydrocephalus - closed	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Cerebral gigantism jaw cysts syndrome	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Fallopian tube and broad ligament anomalies (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Fallopian tube and broad ligament anomalies (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
A rare syndrome characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
A diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Atrioventricular septal defect with atrioventricular valve regurgitation through right anterosuperior inferior mural commissure (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	3
Bronchopulmonary isomerism	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Shone complex	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Shone complex	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
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	True	Morphologically abnormal structure	Inferred relationship	Some	1
Discontinuity between mitral valve and pulmonary valve (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Discontinuity between mitral valve and pulmonary valve (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Double inlet left ventricle	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital superior sulcus anomaly of orbit	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Ecchordosis physaliphora	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital anomaly of stomach	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare ectodermal dysplasia syndrome characterized by a variably severe clinical picture comprising dry, thin skin, onychodysplasia, trichodysplasia, and dental abnormalities (such as hypodontia, microdontia, and persistence of deciduous teeth). There have been no further descriptions in the literature since 1990.	Associated morphology	True	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)