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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
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
anomalie congénitale de l'utérus affectant les soins obstétricaux Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Horizontal orbital dystopia Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Major systemic to pulmonary collateral artery with absent pulmonary arteries proximal to hilar bifurcation (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Major systemic to pulmonary collateral artery with absent pulmonary arteries proximal to hilar bifurcation (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Early onset myopathy with fatal cardiomyopathy (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Pericarditis secondary to Mulibrey nanism (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Developmental anomaly of odontoid process of axis (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of sandwich vertebrae (dense bands of sclerosis parallel to the vertebral endplates). Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Leprechaunism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Ectodermal dysplasia with tooth-sweating defect Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterized by slow progression of muscle weakness and unique histopathological findings. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Orbital separation diminished Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Uterus acollis Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Platypellic pelvis Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital abnormality of atria and atrial septum Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Congenital malformation of upper alimentary tract Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of renal pelvis Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Axillary freckling due to neurofibromatosis (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Axillary freckling due to neurofibromatosis (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Mondini defect Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Aortic orifice left side by side with respect to pulmonary orifice (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Amelogenesis imperfecta, hypoplastic type with microdontia Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Pleuropericardial cyst Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions in brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures. Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
Oesophageal atresia, stenosis and fistula Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of maxilla Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Ectopic cilia of eyelid Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Congenital anomaly of aortic arch Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital malformation syndrome (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Macrophthalmos Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
A form of congenital muscular dystrophy characterized by a congenital to childhood onset of progressive proximal muscle weakness, joint contractures, and potential respiratory insufficiency in adulthood. Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
A teratologic disorder associated with intrauterine exposure of phenobarbital during the first trimester of pregnancy. Infants are usually asymptomatic but an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism, epicanthus, hypoplasia and low insertion of the nose, low insertion of the ears, prognathism, finger hypoplasia, brachydactyly and hypospadias have been reported in rare cases. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital malformation of vitreous humour Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Major systemic to pulmonary collateral artery supplying part of right lung Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Major systemic to pulmonary collateral artery supplying part of right lung Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Ruvalcaba syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Ruvalcaba syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Abnormal blue sclerae Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital dysplasia of left lobe of lung co-occurrent with congenital vascular malformation (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Gorlin-Chaudhry-Moss syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Bilobed right lung Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Nevus anemicus Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Levy-Hollister syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Thomas syndrome is characterized by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Thomas syndrome is characterized by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Isolation of subclavian artery Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Multiple malformation syndrome with facial-limb defects as major feature Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Multiple malformation syndrome with facial-limb defects as major feature Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Undescended testes - bilateral Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Pre-eruptive color change of tooth Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Ohdo syndrome, Maat-Kievit-Brunner type Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit. Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Fronto-frontal dysostosis (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
An autosomal dominant cerebellar ataxia type I that is characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Autosomal recessive muscular dystrophy with gene located at 15q Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Lateral accessory root canals Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Lack of ossification of radius Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Hologastroschisis Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Congenital anomaly of aortic arch AND/OR descending aorta (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital iodine deficiency syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of auricular abnormalities (such as external ear abnormalities and postauricular pits) and cleft lip with or without cleft palate. Additional manifestations include myopia, nystagmus, and retinal pigment abnormalities. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital abnormality of ventricles and ventricular septum Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Atrioventricular septal defect - ventricular component under inferior bridging leaflet Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Multiple benign annular creases of extremities Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of pericardium Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Supramitral left atrial ring Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital abnormality of lacrimal drainage system (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Vertical orbital dystopia Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital nuclear ophthalmoplegia Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital malformation of nasal septum (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Systemic to pulmonary collateral artery from left brachiocephalic artery (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Systemic to pulmonary collateral artery from left brachiocephalic artery (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Overgrowth of upper limb Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Overgrowth of upper limb Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Congenital vascular malformation of orbit Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
A rare ectodermal dysplasia syndrome characterized by the association of ectodermal dysplasia (with hypotrichosis affecting scalp hair, eyebrows, and eyelashes, and partial anodontia), ectrodactyly, and macular dystrophy (appearing as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels). Variable additional limb defects (including absence deformities, polydactyly, syndactyly, or camptodactyly) have also been described, the hands often being more severely affected than the feet. Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
A rare genetic mandibulofacial dysostosis characterized by bilateral symmetrical oto-mandibular dysplasia including underdeveloped cheekbones (malar hypoplasia), a very small low jaw (micrognathia) and downward-slanting palpebral fissures, coloboma of the lower eyelids, microtia, hearing loss and without abnormalities of the extremities. Intelligence is normal. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital abnormality of hepatic vein (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of lower limb Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Corneal size and shape anomalies Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Vascular compression of esophagus by aberrant artery Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Multiple café-au-lait macules due to neurofibromatosis (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Multiple café-au-lait macules due to neurofibromatosis (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Reduction anomaly of hypothalamus Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Reduction anomaly of hypothalamus Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Tracheal origin of right upper lobe bronchus (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Tracheal origin of right upper lobe bronchus (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Alstrom syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Genetic defect of hair shaft (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Uterus cordiformis Associated morphology True Morphologically abnormal structure Inferred relationship Some 1

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