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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
Timothy syndrome is a multi-system disorder with characteristics of cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders. Timothy syndrome is caused by mutations in the CACNA1C gene. It is inherited as autosomal dominant trait. Researchers have identified two forms of Timothy syndrome. Type 1, which is also known as the classic type, includes all of the characteristic features described above. Type 2, or the atypical type, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death. Unlike the classic type, the atypical type does not appear to cause webbing of the fingers or toes. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital malformation syndromes associated with short stature Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Central serous retinopathy with pit of optic disc Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of spermatic cord Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Dentinogenesis imperfecta - Shield's type I Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Total anomalous pulmonary venous connection of intracardiac type (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
A very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital midvalvar ring of mitral leaflet (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital failure of eye elevation Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Systemic to pulmonary collateral artery from right brachiocephalic artery (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Systemic to pulmonary collateral artery from right brachiocephalic artery (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare genetic disease characterized by sensorineural hearing loss, abnormalities in the secondary dentition (such as enamel hypoplasia, taurodontism, or dental overcrowding), and nail abnormalities (including leukonychia and presence of transverse ridges). Association with macular dystrophy has also been reported. Associated morphology False Morphologically abnormal structure Inferred relationship Some 4
Myopathy with type I hypotrophy Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and ureteral abnormalities are absent. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Tricho-oculodermovertebral syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Tricho-oculodermovertebral syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Ear, face and neck congenital anomalies Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Ear, face and neck congenital anomalies Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Ear, face and neck congenital anomalies Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
First and second branchial arch syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
First and second branchial arch syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Barkan membrane Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Eisenmenger's defect Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
A rare closed neural tube defect characterized by cystic dilatation of the central canal of the spinal cord, herniating through a posterior vertebral arch defect (spina bifida) into an expanded cerebrospinal fluid (CSF) filled dural sac (meningocele). It can be located at the caudal part of the spinal cord (terminal myelocystocele) or above conus (non-terminal myelocystocele). Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital anomaly of talus Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Melnick-Fraser syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Melnick-Fraser syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Intracardiac location of anomalous pulmonary venous connection to right atrium (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Phakomatosis caesiomarmorata Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Phakomatosis caesiomarmorata Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Phakomatosis caesiomarmorata Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Semi-lobar holoprosencephaly Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Potter's facies Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital malformation of trachea and bronchus Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital malformation of trachea and bronchus Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterised by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia) and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Cobb's syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Cobb's syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Lack of ossification of palatine bone Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital convoluted ureter Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Hemianencephaly Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
A rare disorder characterized by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene. Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Primary vesicoureteric reflux (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Russell-Silver syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital hypomyelinating neuropathy Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Criss-cross heart Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Lack of ossification of clavicle Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital myelin deficiency of the optic disc Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Microcephaly-deafness-intellectual disability syndrome is characterized by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, café-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986. Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, café-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986. Associated morphology False Morphologically abnormal structure Inferred relationship Some 5
Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, café-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Upper moiety ureter of duplex kidney Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Lissencephaly syndrome, Norman-Roberts type is characterized by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Lissencephaly syndrome, Norman-Roberts type is characterized by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare malformation syndrome characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Thyroglossal duct sinus (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
syndrome ischio-vertébral Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Bardet-Biedl syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Double outlet right ventricle Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Short rib-polydactyly syndrome, Majewski type Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
A rare multiple congenital anomalies syndrome characterised by variable skeletal abnormalities (including craniostenosis, pectus carinatum, short sternum, joint hyperextensibility, and abnormal vertebrae), cutis laxa with excessive skin folds around the cheek, chin and neck, ambiguous genitalia with a micropenis and perineal hypospadia, an umbilical hernia, intellectual disability, premature aged appearance, and cardiac enlargement involving either the ventricles or atria. Facial dysmorphism is variable and can include multiple hair whorls, ptosis, high and broad nasal root, low set ears and small chin. Enamel hypocalcification, abnormal modelling of tubular bones, and reduced cutis laxa may become apparent later on. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Marshall-Smith syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three siblings and their mother. Inheritance is autosomal dominant. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital oesophageal ring Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital secondary pulmonary lymphangiectasis (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Fatal congenital nonlysosomal heart glycogenosis (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Dysplastic ovary Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of subcutaneous tissue Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital intracranial vascular malformation (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Dumbbell ossification of centrum of cervical vertebra Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Pseudocryptorchism Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Pseudocryptorchism Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Duane's syndrome of left eye (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Duane's syndrome of left eye (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital abnormality of scrotum Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Pena-Shokeir phenotype Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Cerebro-oculo-facio-skeletal syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Major systemic to pulmonary collateral artery supplying part of left lung (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Major systemic to pulmonary collateral artery supplying part of left lung (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Fetal minoxidil syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital malformation of eye, ear and neck (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital malformation of eye, ear and neck (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital malformation of eye, ear and neck (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Posterior perimaxillary faciosynostosis Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Congenital malformation of thumb (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Fissured spine Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Total anomalous pulmonary venous connection to right atrium (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
X-linked limb girdle muscular dystrophy with normal dystrophin Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Sacral spina bifida without hydrocephalus - closed Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital left vesicoureterorenal reflux Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital left vesicoureterorenal reflux Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Specified anomalies of choroid Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Ectopic pancreatic tissue in stomach Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Fetal aminopterin syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Fetal aminopterin syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 2

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