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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
Ethmocephalus Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Triplex ureter Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Simpson-Golabi-Behmel syndrome (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Ulegyria Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Fetal captopril/enalapril syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Malalignment of aortic sinus in relation to pulmonary sinus (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital leg length discrepancy (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spina bifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects. There have been no further descriptions in the literature since 1987. Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
raideur articulaire congénitale associée à une myopathie Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
X-linked muscular dystrophy with abnormal dystrophin Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly with facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated. Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly with facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated. Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Moore-Federman syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Genodermatosis Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Dentinogenesis imperfecta Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Endemic congenital iodine deficiency syndrome of myxedematous type (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Encephalo-ophthalmic dysplasia Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Noonan's syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Precocious exfoliation due to ectopic eruption of proximate tooth (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Congenital cataracts, facial dysmorphism and neuropathy Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital cataracts, facial dysmorphism and neuropathy Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Meckel-Gruber syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumors are frequently associated. Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Deep vein aplasia Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Failure of differentiation of bones of lower limb (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Failure of differentiation of bones of lower limb (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital pulmonary alveolar capillary dysplasia (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Port-wine stain with oculocutaneous melanosis (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Bronchopulmonary collateral artery Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Bronchopulmonary collateral artery Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital anomaly of lacrimal bone Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Cerebral-retinal arteriovenous aneurysm (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Transient infantile osteopetrosis Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Mycophenolate mofetil (MMF) embryopathy is a malformative syndrome due to the teratogenic effect of MMF, an effective immunosuppressive agent widely used for the prevention of organ rejection after organ transplantation. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital nonprogressive myopathy with Moebius and Robin sequences (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of male genital system Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital heterochromia iridis Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of oral mucosa Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Hanhart's syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of joint Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Autosomal recessive centronuclear myopathy Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Retroesophageal aortic arch Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Congenital deformity of right upper limb (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Cylindrical embryo Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Eccentric opening of aortic valve Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature, and intellectual disability. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital malformation of angle of anterior chamber of eye Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Lethal multiple pterygium syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Lethal multiple pterygium syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Systemic to pulmonary collateral artery from left carotid artery (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Systemic to pulmonary collateral artery from left carotid artery (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Lobar holoprosencephaly Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Duane's syndrome, type 3 Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Duane's syndrome, type 3 Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Amelogenesis imperfecta - hypomaturation - recessive pigmented Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare multiple congenital anomalies syndrome characterized by a spectrum of developmental anomalies including cleft lip and/or palate, craniosynostosis, intellectual disability and/or learning disability, radioulnar synostosis, genital and vesicorenal anomalies. Observed facial dysmorphism includes hypertelorism, blepharophimosis, blepharoptosis, high arched eyebrows. Less common features reported include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia/omphalocele and diastasis recti. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Female infertility due to structural congenital anomaly of cervix Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare congenital disorder of bone resorption characterised by generalised skeletal densification. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital polyneuropathy Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital abnormality of relationship of cardiac component Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Lack of ossification of centrum of sacral vertebra Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Trisomy 10p is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Trisomy 10p is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare multiple congenital anomalies syndrome characterized by upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare multiple congenital anomalies syndrome characterized by upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital anomaly of the hematopoietic system Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, neuropathic visceral dysmotility (resulting in neurogenic megacystis and sometimes chronic intestinal pseudo-obstruction syndrome), intracerebral calcifications, and dysmorphic facial features (including broad forehead, downslanted palpebral fissures, strabismus, protruding and low-set ears, and retrognathia). Microcephaly and renal abnormalities have also been reported. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of congenital hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hypertrichosis, and nail abnormalities. There have been no further descriptions in the literature since 1993. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Eccentric opening of tricuspid aortic valve (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Nemaline myopathy, late onset type Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of metatarsal bone Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
FG syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
FG syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Persistent vertical vein Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Persistent vertical vein Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Immotile cilia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Right ventricular outflow tract abnormality Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Simple ureterocele Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Systemic to pulmonary collateral artery contributing to dual lung supply Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Systemic to pulmonary collateral artery contributing to dual lung supply Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Developmental ovarian cyst Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Congenital vascular malformation of lip (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
fœtus ou nouveau-né affecté par l'usage maternel d'alcool Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Congenital deformity of left finger Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of cricoid cartilage Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Fetal carbamazepine syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Ebstein's anomaly of left atrioventricular valve in functionally univentricular heart (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Ebstein's anomaly of left atrioventricular valve in functionally univentricular heart (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Persistent tunica vasculosa lentis Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Persistent tunica vasculosa lentis Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Congenital trigger finger of right hand Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital blind loop syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Dubin-Johnson syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Lack of ossification of metacarpal bone Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare, genetic congenital malformation syndrome characterized by bilateral anophthalmia (or less commonly microphthalmia) in association with a variable combination of the following: pulmonary hypoplasia or agenesis, congenital diaphragmatic hernia or eventration, and variable cardiovascular defects (congenital heart defects and/or pulmonary artery atresia). Intellectual disability is noted in surviving patients. Other variable malformations affecting different organ systems, as well as facial dysmorphism, may be observed. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare, genetic congenital malformation syndrome characterized by bilateral anophthalmia (or less commonly microphthalmia) in association with a variable combination of the following: pulmonary hypoplasia or agenesis, congenital diaphragmatic hernia or eventration, and variable cardiovascular defects (congenital heart defects and/or pulmonary artery atresia). Intellectual disability is noted in surviving patients. Other variable malformations affecting different organ systems, as well as facial dysmorphism, may be observed. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Escobar syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital right vesicoureterorenal reflux Associated morphology True Morphologically abnormal structure Inferred relationship Some 2

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