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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
Autosomal recessive amelia Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Holorachischisis Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Acrootoocular syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Retinal detachment and occipital encephalocele Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Localized macrodontia Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Microcephalic primordial dwarfism Dauber type Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Anomaly of eye Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Cleidocranial dysostosis Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Moynahan's syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Cataract, congenital heart disease, neural tube defect syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Intellectual disability, polydactyly, uncombable hair syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Accessory sternebral ossification site Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Van der Woude syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Odontotrichomelic syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Infracardiac location of anomalous pulmonary venous connection to hepatic vein Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Craniosynostosis and intracranial calcification syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Short stature Brussels type Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Jaw congenital deformities Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Congenital lipomatous overgrowth, vascular malformation, epidermal nevi, skeletal anomaly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Nasal encephalocele Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Microcephalus with albinism and digital anomaly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Oculopalatocerebral syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Hallermann-Streiff syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Congenital venous malformation of skin Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Encephalomyelocele Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Craniofaciofrontodigital syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Congenital endaural hernia Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Atresia of pulmonary artery with septal defect Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Encephalocystocele Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Chondrodysplasia with disorder of sex development syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
DK phocomelia syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Oculotrichodysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Fissured spine with hydrocephalus Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Roselli-Gulienetti ectodermal dysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Neuroectodermal melanolysosomal disease Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Congenital cerebral hernia Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Berlin syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Intellectual disability, cataract, calcified pinna, myopathy syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Hidrotic ectodermal dysplasia Christianson Fourie type Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Alopecia, contracture, dwarfism, intellectual disability syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
2p13.2 microdeletion syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Intellectual disability, myopathy, short stature, endocrine defect syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Frontal encephalocele Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Temporal encephalocele Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Native American myopathy Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Congenital pulmonary lymphangiectasis Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Sinoatrial node dysfunction and deafness Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Frontoethmoidal encephalocele Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Brain malformation, congenital heart disease, postaxial polydactyly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Infracardiac location of anomalous pulmonary venous connections to portal system Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Single tooth macrodontia Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Tricho-oculodermovertebral syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Total anomalous pulmonary venous connection to hepatic vein Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Syndactyly, telecanthus, anogenital and renal malformation syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Single left coronary artery supplying all of heart with usual distribution of right coronary artery derived from distal left coronary artery Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Single coronary artery dividing into right coronary artery and left coronary artery Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Perlman syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Tricho-dento-osseous syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Curly hair, ankyloblepharon, nail dysplasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Pilodental dysplasia, refractive errors syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 5
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Single right coronary artery supplying all of heart with usual distribution of left coronary artery derived from distal right coronary artery Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Chromosome Xq28 trisomy Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Ehlers-Danlos syndrome cardiac valvular type Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Cervical myelocystocele Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Schoepf-Schulz-Passage syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Hidrotic ectodermal dysplasia syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
X-linked intellectual disability with plagiocephaly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Thoracic myelocystocele Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Oral-facial-digital syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Hypertrichosis cubiti Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Combined immunodeficiency with faciooculoskeletal anomalies syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Epilepsy, microcephaly, skeletal dysplasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Polysyndactyly and cardiac malformation syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Endocrine-cerebro-osteodysplasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Parietal encephalocele Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Solitary median maxillary central incisor syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Galloway Mowat syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
15q overgrowth syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Wiedemann Steiner syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Thoracic spina bifida without hydrocephalus - closed Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Opitz-Frias syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Pyknoachondrogenesis Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect without pulmonary stenosis - ventricular septal defect type Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Congenital cataract with hypertrichosis and intellectual disability syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 1

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