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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
Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Ebstein's anomaly of right atrioventricular valve in functionally univentricular heart (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Ebstein's anomaly of right atrioventricular valve in functionally univentricular heart (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Congenital vesicoureterorenal reflux (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital vesicoureterorenal reflux (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Spina bifida with hydrocephalus Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Congenital anomaly of lacrimal system Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Multiple malformation syndrome due to non-infectious environmental agents Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears). Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Bilateral ductus arteriosus with closed left ductus arteriosus and patent right ductus arteriosus Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Jarcho-Levin syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Renal agenesis and dysgenesis Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital heart disease, septal and bulbar anomalies Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Bipartite right ventricle (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Failure of soft tissue differentiation of lower limb Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Failure of soft tissue differentiation of lower limb Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Ruvalcaba-Myhre syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Ruvalcaba-Myhre syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchiectasis and chronic sinusitis) and sensorineural hearing loss. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Prepapillary vascular loop (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Descending aorta anterior and same side as azygos vein with azygos continuity of inferior vena cava (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare, autosomal dominant congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy (hypotonia, distal/proximal muscle weakness, rib cage deformities sometimes associated with respiratory insufficiency), ptosis, ophthalmoparesis and weakness of the muscles of facial expression with dysmorphic facial features. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
hydroméningocèle crânienne congénitale Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
syndrome de malformations de la fosse postérieure, hémangiomes capillaires, anomalies de l'anatomie des artères cérébrales, coarctation de l'aorte et autres malformations cardiaques, anomalies oculaires et anomalies sternales Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
syndrome de malformations de la fosse postérieure, hémangiomes capillaires, anomalies de l'anatomie des artères cérébrales, coarctation de l'aorte et autres malformations cardiaques, anomalies oculaires et anomalies sternales Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Congenital anomaly of calcaneus Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital abnormality of nipple Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare syndromic genetic deafness characterized by profound congenital bilateral sensorineural deafness, developmental delay, moderate intellectual disability, generalized delay in bone maturation, short stature, epiphyseal dysplasia particularly of the capital femoral epiphyses, and mild dysmorphic facial features such as prominent forehead and small, pointed chin. Bilateral obstruction of lacrimal ducts and inguinal and umbilical hernias have also been described. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare syndromic genetic deafness characterized by profound congenital bilateral sensorineural deafness, developmental delay, moderate intellectual disability, generalized delay in bone maturation, short stature, epiphyseal dysplasia particularly of the capital femoral epiphyses, and mild dysmorphic facial features such as prominent forehead and small, pointed chin. Bilateral obstruction of lacrimal ducts and inguinal and umbilical hernias have also been described. Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Congenital cerebral meningocele Associated morphology False Morphologically abnormal structure Inferred relationship Some 4
Congenital anomaly of endocrine gonad (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Anomalies of cerebrum Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Fissured spine with hydrocephalus Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Congenital malformation of salivary glands and ducts (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Irido-corneo-trabecular dysgenesis Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Fetal malformation of central nervous system Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Fetal malformation of central nervous system Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
A rare neuro-ophthalmological disease characterized by severe microcephaly of prenatal onset (with diminutive anterior fontanel and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophthalmia, generalized retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, simplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare neuro-ophthalmological disease characterized by severe microcephaly of prenatal onset (with diminutive anterior fontanel and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophthalmia, generalized retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, simplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, mild intellectual disability, seizures, obesity, and dysmorphic facial features (including large, bulbous nose, prominent philtrum, wide mouth). Additional reported features are bilateral pes planus, scoliosis, and spina bifida occulta. Brain MRI may show mild ventricular dilatation. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of the thymus Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Double barrel dual coronary artery orifices within aortic sinus (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Double barrel dual coronary artery orifices within aortic sinus (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Lack of ossification of nasal bone Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital anomaly of peritoneum Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Cervical aortic arch Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Benign congenital muscular dystrophy with finger flexion contractures Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of visual system Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital malformation caused by cytotoxic agents (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital malformation of the meninges Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Athyrotic hypothyroidism sequence Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Posterior segment vascular anomalies Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Posterior segment vascular anomalies Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Posterior segment vascular anomalies Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Lack of ossification of lacrimal bone Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Dermatoglyphs - skin lines Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Patent ductus venosus Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Cleft palate lateral synechia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital stricture of osseous meatus of middle ear Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Systemic to pulmonary collateral artery Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Systemic to pulmonary collateral artery Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital anomaly of interparietal bone (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Young's syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of large intestine Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Infracardiac location of anomalous pulmonary venous connection (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Congenital anomaly of upper trunk (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Osteopetrosis Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare genetic syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. Associated features may include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, and developmental delay (one case). There have been no further descriptions in the literature since 1993. Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Rieger eye malformation sequence Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Familial multiple nevi flammei is a rare, genetic capillary malformation disorder characterized by dark red to purple birthmarks which manifest as flat, sharply circumscribed cutaneous lesions, typically situated in the head and neck region, in various members of a single family. The lesions grow proportionally with the individual, change in color and often thicken with age. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Duane's syndrome, type 1 Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Duane's syndrome, type 1 Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Bilateral patent arterial ducts Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Coarctation of right pulmonary artery (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Periodontitis co-occurrent with Cohen syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterized by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterized by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterized by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Lack of ossification of centrum of cervical vertebra Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Phakomatosis cesioflammea Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Phakomatosis cesioflammea Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Phakomatosis cesioflammea Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Congenital J shaped sella turcica (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Leptomyelolipoma (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Bulbus cordis and cardiac septal closure anomalies Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Bulbus cordis and cardiac septal closure anomalies Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare X-linked malformation syndrome characterized by craniofacial abnormalities such as uni- or bicoronal synostosis, hypertelorism and a bifid nose, grooved or split nails, frizzy hair, abnormalities of the shoulder girdle, hands and feet. Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Vestigial gastrointestinal remnant Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Vestigial gastrointestinal remnant Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Atrioventricular septal defect with atrioventricular valve regurgitation through right inferior bridging leaflet inferior mural commissure (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
An extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
An extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Smith-Lemli-Opitz syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare ectodermal dysplasia syndrome characterized by neonatal teeth, trichodystrophy (with straw-like, discolored and fragile hair), onychodystrophy, and malformation of the hands and feet consisting of simian-like hands with transverse palmar creases and prominent interdigital folds, brachydactyly, and marked shortness of the first metacarpal and metatarsal bones with hypoplasia of the distal phalanges. There have been no further descriptions in the literature since 1997. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3

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