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49755003: Morphologically abnormal structure (morphologic abnormality)

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

Descriptions:

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
3371000077116 structure anormale sur le plan morphologique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5223 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Morphologically abnormal structure Is a Morphologically altered structure true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Fetal aminopterin syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Isomerism of atrial appendages Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Persistent urogenital sinus Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Proximal penile hypospadias (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Nasofrontal encephalocele Associated morphology False Morphologically abnormal structure Inferred relationship Some 4
Congenital bronchial stenosis Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
syndrome d'Okamoto Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Occult spinal dysraphism sequence Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Exaggerated cingulum of tooth Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of sclera Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Oral lymphangioma Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Holoprosencephaly-caudal dysgenesis syndrome is a central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia). Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Status marmoratus Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Status marmoratus Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare syndrome with 46,XY disorder of sex development characterised by variable degrees of intellectual disability, short stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias and persistence of Müllerian structures), and ocular anomalies (microphthalmia, coloboma). Craniofacial peculiarities (coarse features, deep set eyes), spina bifida, imperforate anus, and sensorineural hearing loss were also described. No new cases have been reported since 1994. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterized by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterized by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance). Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
A rare disorder/difference of sex development (DSD) characterized by atypical gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a 46,XY karyotype. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare genetic, multiple congenital malformation syndrome characterized by brain anomalies (thinning of the corpus callosum with dilatation of ventricles), intellectual disability, ectodermal dysplasia, skeletal deformities (vertebral anomalies, scoliosis, polydactyly), ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and kidney dysplasia/hypoplasia. In the case that clinical manifestation is also associated to Hirschsprung disease and cleft palate or cryptorchidism, it is named as BRESHECK syndrome. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare genetic, congenital, non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Curly hair, ankyloblepharon, nail dysplasia syndrome (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Curly hair, ankyloblepharon, nail dysplasia syndrome (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Systemic to pulmonary collateral artery from coronary artery Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Systemic to pulmonary collateral artery from coronary artery Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Systemic to pulmonary collateral artery from coronary artery Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Retinitis pigmentosa-deafness-ataxia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed. Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985. Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Double ureter Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of thorax Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A condition with multiple abnormalities including mild to severe intellectual disability, impaired growth from birth leading to short stature, and microcephaly. Affected individuals may also have distinctive facial features (including a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth (philtrum), and prominent cheeks), sensorineural hearing loss, and heart malformations Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Right dominant coronary system Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Delayed membranous cranial ossification (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Abnormal relationship of aortic orifice to pulmonary orifice Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Lack of ossification of exoccipital bone Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Intrinsic enamel discoloration of erythroblastosis fetalis Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Intrinsic enamel discoloration of erythroblastosis fetalis Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Lower moiety ureter of duplex kidney Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Jervell and Lange-Nielsen syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Jervell and Lange-Nielsen syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of upper limb Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital malformation of the urinary system (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of organ of Corti Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of fallopian tubes Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Macrodontia Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of rib Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Schwartz-Jampel syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Neurofibromatosis syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Neurofibromatosis syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Synchilia (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Congenital malformation of corpus callosum Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Synotus Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Aortic orifice anterior with respect to pulmonary orifice (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Congenital pulmonary venous atrium Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Arrhythmogenic right ventricular dysplasia (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Anomalies of great veins Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Patent right arterial duct Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital ball and socket ankle Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Interrupted aortic arch (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Osteopetrosis - intermediate type Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Maternal PKU fetal effect Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Dumbbell ossification of centrum of lumbar vertebra Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare genetic disease characterized by the presence of Müllerian duct derivatives (rudimentary uterus, fallopian tubes, and atretic vagina) and other genital anomalies (cryptorchidism, micropenis) in male newborns, intestinal and pulmonary lymphangiectasia, protein-losing enteropathy, hepatomegaly, and renal anomalies. Postaxial polydactyly, facial dysmorphism (including broad nasal bridge, bulbous nasal tip, long and prominent upper lip with smooth philtrum, hypertrophic alveolar ridges, and mild retrognathia, among other features), and short limbs have also been described. The syndrome is fatal in infancy. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Acute respiratory distress in newborn with surfactant disorder Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Congenital abnormality of mitral subvalvular apparatus (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of lower respiratory system Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Fetal misoprostol syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital abnormality of pulmonary trunk (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Ji muscular dystrophy Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Congenital bronchopulmonary foregut malformation Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
De Lange syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital athetosis Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Biemond's syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare heterotaxia characterised by complex congenital heart malformations and abnormal lateralisation of other thoracic and abdominal organs due to embryonic disruption of the left-right axis development. Cardiac defects include dextrocardia or mesocardia, common atrioventricular valve associated with complete atrioventricular septal defect or common atrium, transposition or malposition of the great arteries, and total anomalous pulmonary venous drainage, among others. Cardiac arrhythmias are frequently observed. Typical abnormalities of other organs are bilateral trilobed lungs, midline liver, and asplenia. Patients present in the newborn period with severe cardiac failure and cyanosis. Prognosis is poor. Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
A rare heterotaxia characterised by complex congenital heart malformations and abnormal lateralisation of other thoracic and abdominal organs due to embryonic disruption of the left-right axis development. Cardiac defects include dextrocardia or mesocardia, common atrioventricular valve associated with complete atrioventricular septal defect or common atrium, transposition or malposition of the great arteries, and total anomalous pulmonary venous drainage, among others. Cardiac arrhythmias are frequently observed. Typical abnormalities of other organs are bilateral trilobed lungs, midline liver, and asplenia. Patients present in the newborn period with severe cardiac failure and cyanosis. Prognosis is poor. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Pena-Shokeir syndrome type I (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, psychomotor retardation, flat face and some features resembling Marfan syndrome, such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, and muscle hypotonia. There have been no further descriptions in the literature since 1984. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital ectodermal defect Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Nasopharyngeal encephalocele Associated morphology False Morphologically abnormal structure Inferred relationship Some 4
Sturge-Weber syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Sturge-Weber syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 4
Sturge-Weber syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Congenital anomaly of cervix Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Genetic disorder of surfactant dysfunction Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Horner's teeth (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital tracheomalacia Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
A rare X-linked syndromic intellectual disability characterized by congenital sensorineural hearing loss, varying degrees of intellectual disability, short stature, and dysmorphic facial features (such as telecanthus, epicanthic folds, broad nasal root, malar hypoplasia, low-set ears, dental anomalies, and micrognathia). Additional reported manifestations include microcephaly, renal and genitourinary abnormalities, widely spaced, hypoplastic nipples, and adult onset of progressive pancytopenia. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Atrioventricular septal defect with ventricular component and shunting under connecting tongue with separate orifices (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital abnormality of salivary duct Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital myopathy with uniform fiber type Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
An X-linked syndromic intellectual disability characterized by developmental delay, intellectual disability (ID) with severe speech impairment, and short stature. Variable additional clinical features have been associated, including behavioral disturbances, gait abnormalities, tremor, seizures, hypogonadism, truncal obesity, unspecific facial dysmorphism, and small hands and feet. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital malformation of uterus and cervix Associated morphology True Morphologically abnormal structure Inferred relationship Some 1

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