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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
Osteopenia, intellectual disability, sparse hair syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Microbrachycephaly, ptosis, cleft lip syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Hypertelorism Teebi type Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Congenital anomaly of blood vessel of orbit proper Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Pachyonychia congenita type III of Schafer-Brunauer Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Repair of interrupted aortic arch Direct morphology True Morphologically abnormal structure Inferred relationship Some 1
Craniosynostosis Boston type Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Microcephaly, seizure, intellectual disability, heart disease syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Carrier of fragile X chromosome Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Jackson-Weiss syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Microcephaly with cardiac defect and lung malsegmentation syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Tripartite right ventricle Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Odonto-tricho-ungual-digito-palmar syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Vitellointestinal band Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Biliary atresia with splenic malformation syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Carrier of Canavan disease Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Right atrial appendage - left - juxtaposition Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Acrofrontofacionasal dysostosis type 2 Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Parietal foramina with clavicular hypoplasia Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Carrier of haemoglobinopathy E disorder Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Cholestasis with pigmentary retinopathy and cleft palate syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Filippi syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Pachyonychia congenita type II of Jackson-Lawler Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Deafness, enamel hypoplasia, nail defect syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Tendon transfer and arthrodesis to correct claw toe Direct morphology False Morphologically abnormal structure Inferred relationship Some 3
Carrier of muscular dystrophy Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
PENS syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Carrier of von Willebrand disease Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Amelogenesis imperfecta, hypocalcification type Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Hirschsprung disease with nail hypoplasia and dysmorphism Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Pterygium colli with intellectual disability and digital anomaly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Acro-dermato-ungual-lacrimal-tooth syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Ehlers-Danlos syndrome musculocontractural type Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Hypotonia, speech impairment, severe cognitive delay syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Radio-renal syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Ponseti manipulation Direct morphology True Morphologically abnormal structure Inferred relationship Some 1
Oto-palato-digital syndrome, type II Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
15q overgrowth syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
CAMOS syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Unipartite right ventricle Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Atrioventricular septal defect with ventricular component under superior bridging leaflet with chords at crest ventricular septum Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Primary correction of clubfoot Direct morphology False Morphologically abnormal structure Inferred relationship Some 1
Prominent valve of inferior vena cava Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Short rib polydactyly syndrome Saldino Noonan type Associated morphology False Morphologically abnormal structure Inferred relationship Some 4
Trigonocephaly with bifid nose and acral anomaly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Sandman-Andra syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Temtamy syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Overgrowth, macrocephaly, facial dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital dysplasia of right lobe of lung co-occurrent with congenital vascular malformation Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
5p13 microduplication syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Atrioventricular septal defect - ventricular component Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Atrioventricular septal defect with atrioventricular valve regurgitation Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Carrier of haemoglobinopathy C disorder Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Cervical spina bifida with hydrocephalus - open Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Sacral spina bifida with hydrocephalus - open Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Cervical spina bifida with hydrocephalus - closed Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Spina bifida with hydrocephalus - open Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Lumbar spina bifida with hydrocephalus - closed Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Sacral spina bifida with hydrocephalus - closed Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Lumbar spina bifida with hydrocephalus - open Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Lumbar spina bifida with hydrocephalus Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Lumbosacral neuritis, unspecified Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Ovotestis Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Moon's molar teeth Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Infection causing congenital anomaly Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Hutchinson's teeth Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Anomaly of fetal kidney Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
RAB18, member RAS oncogene family deficiency Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Warburg micro syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Warburg micro syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Vestibular neuronitis of left inner ear Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Bilateral vestibular neuronitis of inner ears Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Bilateral vestibular neuronitis of inner ears Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Vestibular neuronitis of right inner ear Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
X-linked intellectual disability, craniofacioskeletal syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Postaxial polydactyly, dental, vertebral anomalies syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Postaxial polydactyly, dental, vertebral anomalies syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Thakker Donnai syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia Genevieve type Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Zechi Ceide syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 4
Zechi Ceide syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Zechi Ceide syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Hydrocephalus, blue sclera, nephropathy syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Hydrocephalus, blue sclera, nephropathy syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Congenital lethal myopathy Compton North type Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Xeroderma pigmentosum and Cockayne syndrome complex Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Malignant hyperthermia with arthrogryposis and torticollis syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Papillon-Lefèvre syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Telecanthus, hypertelorism, strabismus, pes cavus syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Facial dysmorphism, conductive hearing loss, heart defect syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Fetal akinesia, cerebral and retinal haemorrhage syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Haim Munk syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Lack of ossification of auditory ossicles Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Lack of ossification of vomer Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
CK syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Lack of ossification of mandible Associated morphology True Morphologically abnormal structure Inferred relationship Some 2

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