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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
Congenital female urogenital anomaly (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterized by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterized by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterized by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs. Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterized by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Juberg Marsidi syndrome (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis (most commonly of the back or elbow regions), facial dysmorphism, behavioral problems, developmental delay and, most commonly, mild to moderate intellectual disability. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital anomaly of head Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Lack of ossification of presphenoid bone Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Cranio-orbito-ocular dysraphia syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of eye Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital abnormal long growth of bile duct Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Undescended testicle Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, developmental delay and intellectual disability, postnatal growth retardation, dysmorphic craniofacial features (including sloping forehead, beaked nose, large and protruding ears, micrognathia, high-arched palate, and craniosynostosis), immunologic abnormalities with transient hypogammaglobulinemia in infancy and defective chemotaxis leading to recurrent infections, as well as autoimmune/autoinflammatory phenomena. Skeletal anomalies and hypogonadism have also been reported. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Capillary-venous malformation Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Capillary-venous malformation Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Vascular compression of esophagus by aberrant right subclavian artery arising from descending aorta Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Congenital corneal opacity interfering with vision Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophthalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital abnormality of uterus in pregnancy, childbirth and the puerperium Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital asymmetry of jaw (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Orbital dystopia Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of digestive tract Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of endocrine gland Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
syndrome dento-oculocutané Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Plantarflexed cuboid Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Plantarflexed cuboid Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Overriding mitral valve Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Congenital anomaly of small intestine Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Femoral hypoplasia - unusual facies syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Anomalous coronary artery with acute angulation of less than 45 degrees relative to aorta (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Peters plus syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Distichiasis-lymphedema syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Straddling mitral valve Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of intestinal tract Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare, genetic, frontonasal dysplasia characterized by coronal craniosynostosis, large skull defect with aplasia of ethmoid and nasal bones, hypertelorism, severely depressed nasal bridge and bifid nasal tip in association with total alopecia and hypogonadism. Intellectual disability is mild to moderate. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Macropalpebral fissure Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Macropalpebral fissure Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of ear with impairment of hearing Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital malformation of dural sinus Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
VATER association Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Triple kidney with triple pelvis Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Reduction deformities of brain Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Cleft leaflet of tricuspid valve Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Diplomyelia Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Diplomyelia Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Indomethacin embryofetopathy refers to the manifestations that may be observed in a fetus or newborn when the mother has taken indomethacin, a potent prostaglandin inhibitor and tocolytic agent that can cross placenta, during pregnancy. Reported adverse fetal/neonatal effects include decreased renal function resulting in oligohydramnios, closure of the ductus arteriosus, and delayed cardiovascular adaptation at birth. These effects are usually transient and reversible. Indomethacin may also be a risk factor for cerebral injury (periventricular leukomalacia) and necrotizing enterocolitis in preterm infants. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of lens Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Cutis laxa, recessive, type II Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
A rare genetic developmental and neurological disorder characterised by the association of partial bilateral aniridia (or iris hypoplasia), with non-progressive cerebellar ataxia, intellectual disability, and congenital hypotonia. Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
A rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hypoventilation with oxygen desaturation and progressing to daytime respiratory failure. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of central nervous system Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Spina bifida aperta of lumbar spine (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Major systemic to pulmonary collateral artery supplying entire left lung (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Major systemic to pulmonary collateral artery supplying entire left lung (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Congenital tracheobronchomegaly Associated morphology False Morphologically abnormal structure Inferred relationship Some 4
Congenital tracheobronchomegaly Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Specified anomalies of sclera Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Congenital abnormality of right atrioventricular valve papillary muscle in double inlet ventricle (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Thyroglossal duct anomaly Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Cervical spina bifida with hydrocephalus Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Reniform pelvis Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital epiblepharon-inferior oblique syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital exotropia Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Protrusion of tooth (finding) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Hypoplastic enamel-onycholysis-hypohidrosis syndrome (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Brugsch's syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Cerebro-costo-mandibular syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Myotubular myopathy with type I atrophy Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of abdominal wall Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
A rare developmental defect during embryogenesis characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), Mullerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Right aortic arch branching pattern (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Merosin deficient congenital muscular dystrophy Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Double eyebrow Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Double eyebrow Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Severe autosomal recessive muscular dystrophy of childhood - North African type Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Congenital abnormality of left atrioventricular valve chordae tendinae in double inlet ventricle (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
An X-linked syndromic intellectual disability characterized by intellectual disability, subcortical cerebral atrophy, dental anomalies, patella luxation, lower back skin dimple, and dysmorphic facial features. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomalies of eyelid, lacrimal system and orbit Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Congenital anomalies of eyelid, lacrimal system and orbit Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomalies of eyelid, lacrimal system and orbit Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
An extremely rare chondrodysplastic malformation syndrome characterised by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. There have been no further descriptions in the literature since 1972. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
An extremely rare chondrodysplastic malformation syndrome characterised by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. There have been no further descriptions in the literature since 1972. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital anomaly of the thyroid gland Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Edinburgh malformation syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and death within a few months of birth. Carp mouth, hairiness of the forehead, neonatal hyperbilirubinemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Imperforate left ventriculoarterial valve Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Oculofaciocardiodental syndrome (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Intracardiac location of anomalous pulmonary venous connection to coronary sinus (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Venous-lymphatic malformation Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Venous-lymphatic malformation Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital anomaly of pelvic bones Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (brachycephaly, long, narrow, triangular face, prominent forehead, hypertelorism, flat philtrum, microstomia, thin lips, hypoplastic maxilla), marfanoid habitus with arachnodactyly, and moderate to severe intellectual disability. Additional features may include clinodactyly, triphalangeal thumbs, hammer-shaped toes, hyperextensible joints, hypotonia, hyperreflexia and underdeveloped musculature. Delayed external genitalia development, as well as seizures and mitral regurgitation have been reported in some cases. There have been no further descriptions in the literature since 1995. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Irido-corneal dysgenesis Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Associates gingival fibromatosis with dental abnormalities including generalized thin hypoplastic amelogenesis imperfecta, intrapulpal calcifications and delay of tooth eruption. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2

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