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49755003: Morphologically abnormal structure (morphologic abnormality)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

4996 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
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Microcephalic osteodysplastic dysplasia Saul Wilson type Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Orofaciodigital syndrome type 10 Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital conductive hearing loss Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Temple Baraitser syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Ulbright Hodes syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Facial dysmorphism, cleft palate, loose skin syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Saito Kuba Tsuruta syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Global developmental delay, osteopenia, ectodermal defect syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Relative generalised microdontia Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Trichodermodysplasia and dental alterations syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
SCARF syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Intellectual disability, seizures, macrocephaly, obesity syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Nasofrontal encephalocele Associated morphology False Morphologically abnormal structure Inferred relationship Some 5
Holoprosencephaly with caudal dysgenesis syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Microcephalic primordial dwarfism Alazami type Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Cystic leucoencephalopathy without megalencephaly Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Nasopharyngeal encephalocele Associated morphology False Morphologically abnormal structure Inferred relationship Some 5
Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Aniridia and absent patella syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Orofaciodigital syndrome type 11 Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
X-linked mandibulofacial dysostosis Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Epilepsy telangiectasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
XY type gonadal dysgenesis with associated anomalies syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
PIBIDS syndrome, photosensitivity with IBIDS Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Isotretinoin-like syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Frontonasal dysplasia with alopecia and genital anomaly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
GAPO syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Thoracolumbar spina bifida without hydrocephalus - closed Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
True generalised microdontia Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Orofaciodigital syndrome type 8 Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Absent thumb with short stature and immunodeficiency syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Joubert syndrome with orofaciodigital defect Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Radicular dens invaginatus Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Van den Ende-Gupta syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Gingival fibromatosis with facial dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Odontochondrodysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Pili torti onychodysplasia syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Modified Johanson operation for claw toe with arthrodesis Direct morphology False Morphologically abnormal structure Inferred relationship Some 1
Malan overgrowth syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Heide syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
CHIME syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Repair of claw toe Direct morphology False Morphologically abnormal structure Inferred relationship Some 1
Dermatoosteolysis Kirghizian type Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Carrier of beta thalassaemia Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Zlotogora Ogur syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Marshall syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Fountain syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Drash syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Familial mesangial sclerosis Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Primary correction of congenital deformity of foot Direct morphology False Morphologically abnormal structure Inferred relationship Some 1
Carrier of alpha thalassaemia Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Exstrophy of cloaca sequence Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Exstrophy of cloaca sequence Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Atrioventricular septal defect - isolated ventricular component Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Severe X-linked intellectual disability Gustavson type Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Cardiomyopathy and renal anomaly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Kohlschutter's syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Atrioventricular septal defect: atrial and ventricular components Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
XTE syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Atrioventricular septal defect with separate atrioventricular orifices Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Stickler syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal naevus syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Atrioventricular septal defect with ventricular component and interchordal shunting under superior bridging leaflet Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Carrier of Duchenne muscular dystrophy Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Atrioventricular septal defect with ventricular imbalance consisting of dominant left ventricle and hypoplastic right ventricle Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Cyprus facial neuromusculoskeletal syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Cryptomicrotia, brachydactyly, excess fingertip arch syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Larsen syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Goldberg Shprintzen megacolon syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Tetralogy of Fallot with pulmonary atresia and systemic-to-pulmonary collateral artery Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Atrioventricular septal defect with atrial and ventricular components and separate atrioventricular valves Associated morphology True Morphologically abnormal structure Inferred relationship Some 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 Some 1
Carrier of familial dysautonomia Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital nephrotic syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Carrier of haemoglobinopathy disorder Associated morphology True Morphologically abnormal structure 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 Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Obstructed interchordal space of tricuspid chordae tendinae Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Teebi Shaltout syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Weaver Williams syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Atrioventricular septal defect with ventricular imbalance consisting of dominant right ventricle and hypoplastic left ventricle Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Dental midlines coincident and incorrect Associated morphology False Morphologically abnormal structure Inferred relationship Some 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 Some 1
Craniosynostosis with facial dysmorphism and brachydactyly syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Finnish congenital nephrotic syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Atrioventricular septal defect with common atrioventricular orifice Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Craniofacial conodysplasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Hypogonadism with anosmia Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Hyperganglionosis Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Kousseff syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Osteopenia, intellectual disability, sparse hair syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3

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