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
Congenital anomaly of iris	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Pure gonadal dysgenesis	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Cerebral cortical dysgenesis	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of liver	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Lack of ossification of tympanic anulus	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Borjeson-Forssman-Lehmann syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Myocardial bridge of coronary artery (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Acephalostomia	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Separate hepatic vein and inferior vena cava connections to heart (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Aprosencephaly	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Embedded tooth	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of body cavity	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of thoracic vertebra	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of skeletal muscle	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Aortic orifice posterior left with respect to pulmonary orifice (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital anomaly of tibia	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Walker-Warburgs syndrom	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Cervical spina bifida without hydrocephalus - closed	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
This syndrome is characterized by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Aqueduct of Sylvius anomaly	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Hydrolethalus (HLS) is a severe fetal malformation syndrome characterised by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A teratogenic embryofetopathy that results from maternal exposure to methimazole (MMI; or the parent compound carbimazole) in the first trimester of pregnancy. MMI is an antithyroid thionamide drug used for the treatment of Graves' disease. In the infant, MMI may result in choanal atresia, esophageal atresia, omphalocele, omphalomesenteric duct anomalies, congenital heart disease (such as ventricular septal defect), renal system malformations and aplasia cutis. Additional features that may be observed include facial dysmorphism (short upslanting palpebral fissures, a broad nasal bridge with a small nose and a broad forehead) and athelia/hypothelia.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
X-linked intellectual disability-cubitus valgus-dysmorphism syndrome is characterized by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
X-linked intellectual disability, Stevenson type is characterized by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
X-linked intellectual disability, Stevenson type is characterized by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital developmental anomaly of cystic duct (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the common manifestations found in oromandibular-limb hypogenesis syndromes (OLHS) group such as hypoplasia of the mandible, variable limb anomalies like syndactyly and ectrodactyly, small mouth, cleft palate and hypodontia, accompanied by other clinical signs such as facial paralysis, facial asymmetry, hypertelorism, hypoglossia/aglossia, absent or conically crowned incisors and, ectromelia. There have been no further descriptions in the literature since 1976.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the common manifestations found in oromandibular-limb hypogenesis syndromes (OLHS) group such as hypoplasia of the mandible, variable limb anomalies like syndactyly and ectrodactyly, small mouth, cleft palate and hypodontia, accompanied by other clinical signs such as facial paralysis, facial asymmetry, hypertelorism, hypoglossia/aglossia, absent or conically crowned incisors and, ectromelia. There have been no further descriptions in the literature since 1976.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the common manifestations found in oromandibular-limb hypogenesis syndromes (OLHS) group such as hypoplasia of the mandible, variable limb anomalies like syndactyly and ectrodactyly, small mouth, cleft palate and hypodontia, accompanied by other clinical signs such as facial paralysis, facial asymmetry, hypertelorism, hypoglossia/aglossia, absent or conically crowned incisors and, ectromelia. There have been no further descriptions in the literature since 1976.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the common manifestations found in oromandibular-limb hypogenesis syndromes (OLHS) group such as hypoplasia of the mandible, variable limb anomalies like syndactyly and ectrodactyly, small mouth, cleft palate and hypodontia, accompanied by other clinical signs such as facial paralysis, facial asymmetry, hypertelorism, hypoglossia/aglossia, absent or conically crowned incisors and, ectromelia. There have been no further descriptions in the literature since 1976.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	4
Kohlschutter's syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Kohlschutter's syndrome	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Secondary congenital bronchomalacia (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Spina bifida of lumbar region	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a rare, genetic pigmentation anomaly of the skin disorder characterized by congenital hypomelanotic and hypermelanotic cutaneous macules associated with, in some patients, retarded growth and intellectual disability. There have been no further descriptions in the literature since 1978.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Cervical thymic remnant	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
uterus bicornis, der komplicerer svangreomsorg, barn endnu ikke født	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
TARP syndrome is a rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Pentalogy of Cantrell	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
An extremely rare polymalformative syndrome.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
McDonough syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism. There have been no further descriptions in the literature since 1984.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Ochoa syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Atresia and stenosis of large intestine, rectum and anal canal	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Marie Unna syndrome	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anosmia	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by a variable combination of dental, cutaneous, ocular, and bone abnormalities, including pyramidal and fused molar roots, taurodontism, an abnormal upper lip without a cupid's bow and thickened and wide philtrum, juvenile glaucoma, syndactyly, and clinodactyly. There have been no further descriptions in the literature since 1973.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
A rare multiple congenital anomalies/dysmorphic syndrome characterized by a variable combination of dental, cutaneous, ocular, and bone abnormalities, including pyramidal and fused molar roots, taurodontism, an abnormal upper lip without a cupid's bow and thickened and wide philtrum, juvenile glaucoma, syndactyly, and clinodactyly. There have been no further descriptions in the literature since 1973.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Disease with characteristics of craniosynostosis and facial hypoplasia. Craniosynostosis is variable but many sutures are usually involved. Facial anomalies include ocular hypertelorism, small beaked nose, proptosis, exophthalmos, hypoplastic maxilla and mandibular prognathism. Caused by mutations of the fibroblast growth factor receptor FGFR2 (10q25.3-q26) with 80% being located to the immunoglobulin (Ig)-like domain III (IgIII domain) of the extracellular region and an additional 20% of mutations being located in the IgI-IgII domains, transmembrane and tyrosine kinase regions. The disease is transmitted in an autosomal dominant manner with variable penetrance.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare developmental anomaly characterized by midfacial hypoplasia affecting primarily the anterior part of the maxilla (premaxilla) and the nasal complex.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Usher syndrome type 2	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Fibrolipoma of filum terminale (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of cerebrovascular system	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Duodenal web	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Duodenal web	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Manglende blodkar i navlesnoren	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Perodactylia of lesser toe	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anterior urethral valve	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Acrosyndactyly of toe	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital malformation of pancreas	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of optic disc	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Grob's syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Duane-radial ray syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of basioccipital bone	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare malformative syndrome with dentinogenesis imperfecta, characterized by dentin dysplasia with opalescent discoloration and severe attrition of primary and permanent teeth, and delayed eruption, bulbous crowns, long and tapered roots, and progressive root canal obliteration of the permanent dentition, associated with proportionate short stature, sensorineural hearing loss, mild intellectual disability, and dysmorphic facial features. The latter include a prominent nose with high nasal bridge and short philtrum. Osteoporosis, mild platyspondyly, and cone-shaped epiphyses have also been reported.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Benign autosomal dominant osteopetrose	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Pallister-Hall syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare, genetic, syndromic intellectual disability disorder characterized by non-progressive, congenital, marked, central hypotonia, severe psychomotor delay and intellectual disability, chronic constipation, distended abdomen, abnormal dermatoglyphics, delayed and dysharmonic skeletal maturation, and preponderance of type 2 larger-sized muscle fibers. Additional features include narrow and high-arched palate, prominent nasal root, long philtrum, and open mouth with drooling, as well as variably present cryptorchidism, hypertelorism, and tapered fingers. Seizures and/or an abnormal electroencephalograph may also be associated. There have been no further descriptions in the literature since 1994.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare, genetic, syndromic intellectual disability disorder characterized by non-progressive, congenital, marked, central hypotonia, severe psychomotor delay and intellectual disability, chronic constipation, distended abdomen, abnormal dermatoglyphics, delayed and dysharmonic skeletal maturation, and preponderance of type 2 larger-sized muscle fibers. Additional features include narrow and high-arched palate, prominent nasal root, long philtrum, and open mouth with drooling, as well as variably present cryptorchidism, hypertelorism, and tapered fingers. Seizures and/or an abnormal electroencephalograph may also be associated. There have been no further descriptions in the literature since 1994.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
A rare, genetic, syndromic intellectual disability disorder characterized by non-progressive, congenital, marked, central hypotonia, severe psychomotor delay and intellectual disability, chronic constipation, distended abdomen, abnormal dermatoglyphics, delayed and dysharmonic skeletal maturation, and preponderance of type 2 larger-sized muscle fibers. Additional features include narrow and high-arched palate, prominent nasal root, long philtrum, and open mouth with drooling, as well as variably present cryptorchidism, hypertelorism, and tapered fingers. Seizures and/or an abnormal electroencephalograph may also be associated. There have been no further descriptions in the literature since 1994.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Hemimyelia	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Lack of ossification of ulna	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Peg-shaped teeth	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital hypothyroidism without goitre	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Auriculo-condylar syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Auriculo-condylar syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Aganglionosis of large intestine (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Totally absent pericardium	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Cor triatriatum	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of finger	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Amelogenesis imperfecta - hypoplastic autosomal dominant - rough	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Epispadias (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Epispadias (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Coronary orifice asymmetrical	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Coronary orifice asymmetrical	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of vomer	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare, genetic, multiple congenital anomalies syndrome characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck, vertebral anomalies and intellectual disability. There have been no further descriptions in the literature since 1993.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Lack of ossification of alisphenoid bone	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Fukuyama congenital muscular dystrophy	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Condition with either the sacralization of the lowest lumbar segment or the lumbarization of the most superior sacral segment of the spine.	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital malformation of clitoris (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of salivary gland (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of retina	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare syndrome of multiple congenital anomalies characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other SALL4-related disorders including Okihiro syndrome and Holt-Oram syndrome.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
A rare syndrome of multiple congenital anomalies characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other SALL4-related disorders including Okihiro syndrome and Holt-Oram syndrome.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
A rare syndrome of multiple congenital anomalies characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other SALL4-related disorders including Okihiro syndrome and Holt-Oram syndrome.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital malformation of tongue, mouth and pharynx (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital malformation of tongue, mouth and pharynx (disorder)	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)