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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
82870011 Morphologic abnormality en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
82871010 Morphologic abnormality, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
82872015 Morphologic alteration, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
82873013 Morphologic change, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
82874019 Abnormal tissue appearance, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
82877014 Abnormal tissue appearance en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
82878016 Abnormal appearance, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
198205018 Lesion en Synonym (core metadata concept) Inactive Only initial character 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

5194 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
Autosomal recessive amelia (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Holorachischisis Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Acrootoocular syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Retinal detachment and occipital encephalocele Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Localised macrodontia Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Microcephalic primordial dwarfism Dauber type Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Anomaly of eye (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Cleidocranial dysostosis Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Hartsfield syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Moynahan's syndrome Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Cataract, congenital heart disease, neural tube defect syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Intellectual disability, polydactyly, uncombable hair syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Accessory sternebral ossification site Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Van der Woude syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Odontotrichomelic syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Infracardiac location of anomalous pulmonary venous connection to hepatic vein (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Craniosynostosis and intracranial calcification syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Short stature Brussels type (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Jaw congenital deformities Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital lipomatous overgrowth, vascular malformation, epidermal nevi, skeletal anomaly syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Nasal encephalocele Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Microcephalus with albinism and digital anomaly syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Oculopalatocerebral syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Hallermann-Streiff syndrome Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital venous malformation of skin (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Larsen-like syndrome B3GAT3 type Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Encephalomyelocele Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Craniofaciofrontodigital syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital endaural hernia Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Atresia of pulmonary artery with septal defect Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Encephalocystocele Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Chondrodysplasia with disorder of sex development syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
DK phocomelia syndrome (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Oculotrichodysplasia (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Fissured spine with hydrocephalus Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Roselli-Gulienetti ectodermal dysplasia Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Neuroectodermal melanolysosomal disease (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Congenital cerebral hernia Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Berlin syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
2p13.2 microdeletion syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Intellectual disability, myopathy, short stature, endocrine defect syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Frontal encephalocele Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Temporal encephalocele Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Native American myopathy Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Congenital pulmonary lymphangiectasis Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Sinoatrial node dysfunction and deafness Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Frontoethmoidal encephalocele Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Infracardiac location of anomalous pulmonary venous connections to portal system (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Single tooth macrodontia (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Tricho-oculodermovertebral syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Total anomalous pulmonary venous connection to hepatic vein Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Single left coronary artery supplying all of heart with usual distribution of right coronary artery derived from distal left coronary artery (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Single coronary artery dividing into right coronary artery and left coronary artery (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Perlman syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Tricho-dento-osseous syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Curly hair, ankyloblepharon, nail dysplasia syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Pilodental dysplasia, refractive errors syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 5
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Single right coronary artery supplying all of heart with usual distribution of left coronary artery derived from distal right coronary artery (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Chromosome Xq28 trisomy Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Ehlers-Danlos syndrome cardiac valvular type (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Cervical myelocystocele (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Schoepf-Schulz-Passage syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Hidrotic ectodermal dysplasia syndrome Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
X-linked intellectual disability with plagiocephaly syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Thoracic myelocystocele Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Oral-facial-digital syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Hypertrichosis cubiti (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Polysyndactyly and cardiac malformation syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Endocrine-cerebro-osteodysplasia syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Parietal encephalocele Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Solitary median maxillary central incisor syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Galloway Mowat syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
15q overgrowth syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Wiedemann Steiner syndrome Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Thoracic spina bifida without hydrocephalus - closed Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Opitz-Frias syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Pyknoachondrogenesis (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect without pulmonary stenosis - ventricular septal defect type (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1

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