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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
Ectopic thyroid tissue Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
A rare leukodystrophy characterized by congenital thickened, wrinkled skin showing loss of elasticity, in combination with childhood onset of rapidly progressive generalized cognitive and motor impairment quickly resulting in a vegetative state and early death. Neuropathologic examination reveals neuroaxonal leukodystrophy with numerous neuroaxonal spheroids and diffuse loss of axons and myelin sheaths. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Ventricular imbalance (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare multiple congenital anomalies syndrome characterized by intrauterine growth retardation (IUGR), postnatal failure to thrive, severe feeding difficulties, microcephaly/trigonocephaly, facial dysmorphism, a recognizable upper limb posture and severe developmental delay. The upper limb posture consists of internal rotation of the shoulders, flexion of the elbows, ulnar deviation of wrists and/or metacarpophalangeal joints. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare multiple congenital anomalies syndrome characterized by intrauterine growth retardation (IUGR), postnatal failure to thrive, severe feeding difficulties, microcephaly/trigonocephaly, facial dysmorphism, a recognizable upper limb posture and severe developmental delay. The upper limb posture consists of internal rotation of the shoulders, flexion of the elbows, ulnar deviation of wrists and/or metacarpophalangeal joints. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Zebra body myopathy (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Right ventricular outflow tract absent Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Sotos' syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital malformation syndromes affecting facial appearance Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Congenital heart disease Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Dumbbell ossification of centrum of thoracic vertebra Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare, genetic, ectodermal dysplasia syndrome characterized by severe hand/foot anomalies, breast and/or nipple hypoplasia, and ectodermal dysplasia (principally teeth and nail anomalies). Cleft lip/palate may be variably present. Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Ectopic ureterocele Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Vascular malformation of inner ear Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia. Associated morphology False Morphologically abnormal structure Inferred relationship Some 4
Congenital abnormality of atrial septum (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Myopathy with abnormality of histochemical fiber type Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital hereditary muscular dystrophy (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare syndromic intellectual disability characterized by global developmental delay, gastrointestinal problems, hypotonia, delayed speech, behavioral and sleep problems, pain insensitivity, seizures, structural brain anomalies, dysmorphic features, visual problems, early tooth eruption and autistic features. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality. Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Mirror imaged atria Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare, genetic, multiple congenital anomalies syndrome characterized by the association of a typical facial phenotype with microcephaly associated with congenital hypothyroidism, skeletal involvement (polydactyly, long thumb(s) and long first toe(s), and patellar hypoplasia/agenesis), and some degree of global developmental delay, hypotonia and intellectual disability. Facial features include an immobile mask-like face, severe blepharophimosis and ptosis, tear duct abnormalities, a broad nasal bridge, bulbous nasal tip, small mouth, thin upper lip, hypoplastic teeth and small, low set ears. Renal and genital anomalies, usually cryptorchidism, are often present in affected males. Congenital heart defects and growth delay are variably present. Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects. Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects. Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Congenital abnormality of great veins and coronary sinus Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital abnormality of great veins and coronary sinus Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Isolation of brachiocephalic trunk Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of parietal bone Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare oromandibular-limb hypogenesis syndrome (OLHS) characterized by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge. It may be associated with other abnormalities such as cleft palate (in which case the tongue may be attached to the nasal septum), mandibular hypoplasia, upper-lip hypoplasia, hypodontia and variable limb anomalies (e.g. oligodactyly, syndactyly and polydactyly). Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare oromandibular-limb hypogenesis syndrome (OLHS) characterized by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge. It may be associated with other abnormalities such as cleft palate (in which case the tongue may be attached to the nasal septum), mandibular hypoplasia, upper-lip hypoplasia, hypodontia and variable limb anomalies (e.g. oligodactyly, syndactyly and polydactyly). Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
A rare oromandibular-limb hypogenesis syndrome (OLHS) characterized by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge. It may be associated with other abnormalities such as cleft palate (in which case the tongue may be attached to the nasal septum), mandibular hypoplasia, upper-lip hypoplasia, hypodontia and variable limb anomalies (e.g. oligodactyly, syndactyly and polydactyly). Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Dolichopellic pelvis Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Facio-auriculo-vertebral spectrum (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Systemic to pulmonary collateral artery from right carotid artery (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Systemic to pulmonary collateral artery from right carotid artery (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital protrusion of tongue Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Trabecular dysgenesis Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Absence of teeth as a result of impaction, delayed eruption, exfoliation or extraction. Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Abnormal plantar creases Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Abnormal plantar creases Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Osteopetrosis - delayed type Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Myopathy with tubular aggregates Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Ectodermal dysplasia with tooth-nail defects Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
pollice a scatto congenito Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Short stature-valvular heart disease-characteristic facies syndrome is characterized by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Solid rudimentary uterus Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Port-wine stain of skin (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Pulmonary hypertension in neurofibromatosis (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Pulmonary hypertension in neurofibromatosis (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Spina bifida of dorsal region (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Lumbar myelocystocele Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Congenital malformation of the respiratory system Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Atrial septal defect through coronary sinus orifice Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Intellectual disability-balding-patella luxation-acromicria syndrome is characterized by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
lattante ipotonico Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Atrioventricular septal defect with atrioventricular valve regurgitation through left septal commissure (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Localized congenital cutis laxa (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Primary congenital bronchomalacia Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability. Associated morphology False Morphologically abnormal structure Inferred relationship Some 4
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of peripheral nerve Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
X-linked intellectual disability, Seemanova type is characterised by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Interruption of coronary artery Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Solitary median maxillary central incisor syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Cardiac anomalies-heterotaxy syndrome is characterized by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Juxtaposed atrial appendage Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Congenital anomaly of optic nerve Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Interruption of aortic arch between subclavian artery and common carotid artery (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Trichorhinophalangeal dysplasia type I Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Trichorhinophalangeal dysplasia type I Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Trifid kidney Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Pelvis justo major Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Multiple malformation syndrome, small stature, without skeletal dysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital structural abnormality of cornea Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Cutis laxa, recessive, type I Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Major systemic to pulmonary collateral artery supplying entire right lung (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Major systemic to pulmonary collateral artery supplying entire right lung (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Werner syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital abnormality of right atrioventricular valve leaflet in double inlet ventricle (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital anomaly of great vessel Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). Fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). Fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Cyclops Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Abnormality of right superior vena cava Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Dumbbell-shaped cartilaginous centrum of cervical vertebra Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Holoprosencephaly sequence Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare disorder of sex development characterized by primary amenorrhea and ambiguous external genitalia (enlarged clitoris with marked fusion of the labioscrotal folds) in association with skeletal anomalies (such as hypoplasia of the mandibular condyles and the maxilla, and ulnar dislocation of the radial heads), in the presence of a 46,XX karyotype and regular ovaries, fallopian tubes, and uterus. There have been no further descriptions in the literature since 1972. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare disorder of sex development characterized by primary amenorrhea and ambiguous external genitalia (enlarged clitoris with marked fusion of the labioscrotal folds) in association with skeletal anomalies (such as hypoplasia of the mandibular condyles and the maxilla, and ulnar dislocation of the radial heads), in the presence of a 46,XX karyotype and regular ovaries, fallopian tubes, and uterus. There have been no further descriptions in the literature since 1972. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital malformation of anterior pituitary Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital female urogenital anomaly (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1

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