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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

5035 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Morphologically abnormal structure (morphologic abnormality) Is a Morphologically altered structure true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Epilepsy telangiectasia syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
XY type gonadal dysgenesis with associated anomalies syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Isotretinoin embryopathy-like syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Thoracolumbar spina bifida without hydrocephalus - closed Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
True generalized microdontia Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Oro-facial digital syndrome type 8 (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Absent thumb with short stature and immunodeficiency syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Joubert syndrome with orofaciodigital defect (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Radicular dens invaginatus (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Van den Ende-Gupta syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Gingival fibromatosis with facial dysmorphism syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Pili torti onychodysplasia syndrome (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Modified Johanson operation for claw toe with arthrodesis Direct morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Malan overgrowth syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Heide syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Repair of claw toe (procedure) Direct morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Dermatoosteolysis Kirghizian type (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Carrier of beta thalassemia (finding) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Marshall syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Drash syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Familial mesangial sclerosis Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Primary correction of congenital deformity of foot Direct morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Carrier of alpha thalassemia (finding) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Exstrophy of cloaca sequence Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Exstrophy of cloaca sequence Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Atrioventricular septal defect - isolated ventricular component Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Severe X-linked intellectual disability Gustavson type (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Cardiomyopathy and renal anomaly syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Kohlschutter's syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Atrioventricular septal defect: atrial and ventricular components Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
XTE syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Atrioventricular septal defect with separate atrioventricular orifices (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Stickler syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Atrioventricular septal defect with ventricular component and interchordal shunting under superior bridging leaflet (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Carrier of Duchenne muscular dystrophy (finding) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Atrioventricular septal defect with ventricular imbalance consisting of dominant left ventricle and hypoplastic right ventricle (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Cyprus facial neuromusculoskeletal syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Cryptomicrotia brachydactyly syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Larsen syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Goldberg Shprintzen megacolon syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Tetralogy of Fallot with pulmonary atresia and systemic-to-pulmonary collateral artery Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Atrioventricular septal defect with atrial and ventricular components and separate atrioventricular valves (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Atrioventricular septal defect with ventricular component under superior bridging leaflet with chords to papillary muscle on right ventricular side septum (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Carrier of familial dysautonomia (finding) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital nephrotic syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Carrier of hemoglobinopathy disorder (finding) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Atrioventricular septal defect with ventricular component under free floating superior bridging leaflet and chords to papillary muscle at right ventricular free wall (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Obstructed interchordal space of tricuspid chordae tendinae (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Teebi Shaltout syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Weaver Williams syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Atrioventricular septal defect with ventricular imbalance consisting of dominant right ventricle and hypoplastic left ventricle (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Dental midlines coincident and incorrect Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Atrioventricular septal defect with ventricular component under superior bridging leaflet without chordal attachment to ventricular septal crest (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Craniosynostosis with facial dysmorphism and brachydactyly syndrome Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Finnish congenital nephrotic syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Atrioventricular septal defect with common atrioventricular orifice (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Craniofacial conodysplasia syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Hypogonadism with anosmia Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Hyperganglionosis Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Hypertelorism Teebi type (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Congenital malformation of blood vessel of orbit proper (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Pachyonychia congenita type III of Schafer-Brunauer (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Repair of interrupted aortic arch (procedure) Direct morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Craniosynostosis Boston type (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Carrier of fragile X chromosome (finding) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Jackson-Weiss syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Tripartite right ventricle (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Vitellointestinal band Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Biliary atresia with splenic malformation syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Carrier of Canavan disease (finding) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Right atrial appendage - left - juxtaposition Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Acrofrontofacionasal dysostosis type 2 Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Parietal foramina with clavicular hypoplasia Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Carrier of hemoglobinopathy E disorder (finding) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Filippi syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Pachyonychia congenita type II of Jackson-Lawler (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Tendon transfer and arthrodesis to correct claw toe Direct morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Carrier of muscular dystrophy (finding) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1

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