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 mouth (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Fetal iodine syndrome refers to symptoms and signs that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (insufficient or excessive) amounts of iodine. Iodine deficiency is associated with goiter and hypothyroidism. When severe iodine deficiency occurs during pregnancy, it is associated with congenital hypothyroidism that is manifested by increased neonatal morbi-mortality and severe mental dysfunction, hyperactivity, attention disorders and a substantial decrease of IQ of an irreversible nature. Excessive iodine ingestion during the third trimester of pregnancy can result in hypothyroidism and fetal goiter due to a prolonged inhibition of thyroid hormone synthesis, an increase in thyrotropin (TSH).	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Exencephaly	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Exencephaly	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Exencephaly	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones).	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
A rare skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones).	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	4
Congenital abnormality of uterus, affecting pregnancy	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed. Rachischisis totalis (holorachischisis) is the extreme form in which the entire spinal cord remains open.	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
synsnervepapilhul	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Subependymal nodular heterotopia (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Left aortic arch and right descending aorta	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterized by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and fetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia.	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
A very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Mixed vascular malformation (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Atrioventricular septal defect with ventricular component and interchordal shunting under inferior bridging leaflet (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Mesatipellic pelvis	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Shell teeth	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Atrioventricular septal defect with atrioventricular valve regurgitation through left inferior bridging leaflet lateral mural commissure (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	3
Capillary malformation	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Prominent renal pelvis	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Eisenmenger's complex	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Persistent left posterior cardinal vein	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	3
Persistent left posterior cardinal vein	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital abnormality of iris and ciliary body	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital abnormality of iris and ciliary body	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Amelogenesis imperfecta - hypoplastic autosomal dominant - local	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of face (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Fetal hydantoin syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of integument	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Persistent fetal uterus	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Systemic to pulmonary collateral artery connecting with artery (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Systemic to pulmonary collateral artery connecting with artery (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Neurocutaneous syndrome	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Neurocutaneous syndrome	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Autosomal recessive muscular dystrophy not predominantly limb girdle	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Pancreatic duct anomaly	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare hereditary ataxia characterized by unusual facies (i.e. gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia. There have been no further descriptions in the literature since 1985.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare hereditary ataxia characterized by unusual facies (i.e. gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia. There have been no further descriptions in the literature since 1985.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital anomaly of posterior segment of eye	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare disorder defined by generalised osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course. Mutations in the FAM20C gene have a causative role in lethal osteosclerotic bone dysplasia. The condition is transmitted in an autosomal recessive manner.	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (prominent supraorbital ridges, synophrys, large eyes) and optic atrophy have been observed.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of uvula	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Uniatrial biventricular connection with absent left sided atrioventricular connection with straddling valve (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Spina bifida without hydrocephalus - open	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital abnormality of great cardiac vein (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Abnormality of neurogenesis	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of gallbladder	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Usher syndrome type 1	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Right arterial duct	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital abnormality of aortic valve cusp (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Hooded penis	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
foster eller nyfødt påvirket af maternel alkoholafhængighed	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Mietens syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Mietens syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of ossicles of ear	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occurring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a senile facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occurring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a senile facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Hypertelorism	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Neuhauser anomaly is a rare cardiovascular morphological anomaly due to maldevelopment of embryonal aorta resulting in right aortic arch and left ligamentum arteriosum characterized by tracheoesophageal compression symptoms (stridor, dyspnea, dysphagia, apneic episodes, recurrent respiratory infections).	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of renal blood vessel (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Hay-Wells syndrome of ectodermal dysplasia	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	4
Congenital anomaly of lower alimentary tract	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare vascular anomaly or angioma characterized by the presence of small, multifocal bluish-purple venous lesions mainly involving the skin.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of femur	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Cyclops hypognathus	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
enkelt blodkar i navlesnoren	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Auriculoocular anomaly and cleft lip syndrome	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
A rare multiple congenital anomalies syndrome characterized by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder. Variable manifestations include vertebral anomalies, cleft lip/palate, microphthalmia, absent nose, dysplastic ears, hearing loss, colobomas of the iris and retina and/or bifid uvula.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare multiple congenital anomalies syndrome characterized by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder. Variable manifestations include vertebral anomalies, cleft lip/palate, microphthalmia, absent nose, dysplastic ears, hearing loss, colobomas of the iris and retina and/or bifid uvula.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome but differs by the presence of intellectual disability in all affected individuals.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Connective tissue disorder due to lysyl hydroxylase-3 deficiency is a rare, genetic disease, caused by lack of lysyl hydroxylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Connective tissue disorder due to lysyl hydroxylase-3 deficiency is a rare, genetic disease, caused by lack of lysyl hydroxylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of skull	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Opocephalus	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
kongenit uterusabnormitet, barn født, med post partum-komplikation	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Multiple intracardiac shunts	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Anomalous cardiac muscle bands	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Long segment Hirschsprung's disease	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Cryptophthalmos syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital heart disease in pregnancy	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Azygos continuation of inferior vena cava to right superior vena cava (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Ulnar dimelia	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital anomaly of zonula	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Endocardial fibroelastosis of left atrium (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital flaccid paralysis	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Segmental neurofibromatosis	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Segmental neurofibromatosis	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Townes syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Townes syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Neuronal intestinal dysplasia	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Neuronal intestinal dysplasia	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Lack of ossification of humerus	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital retinal fold	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare syndromic form of lissencephaly characterized by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. The syndrome may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and fetal akinesia sequence.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
A rare, severe, genetic, intestinal disease characterized by congenital absence of heparan sulfate from small intestine epithelium manifesting with secretory diarrhea and massive enteric protein loss. Patients present intolerance to enteral feeds during the first few weeks to months of life. Apart from absence of heparan sulfate from the basolateral surface of small intestine enterocytes, small bowel biopsy is otherwise normal.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1

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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)