FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.6  |  FHIR Version n/a  User: [n/a]

49755003: Morphologically abnormal structure (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
82877014 Abnormal tissue appearance en Synonym Active Entire term case insensitive SNOMED CT core module
495494014 Morphologically abnormal structure en Synonym Active Entire term case insensitive SNOMED CT core module
787468010 Morphologically abnormal structure (morphologic abnormality) en Fully specified name Active Entire term case insensitive SNOMED CT core module

5006 descendants. Search Descendants:

Expanded Value Set

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

Start Previous Page 122 of 144 Next End

This concept is not in any reference sets

Back to Start