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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
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Duane-radial ray syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Fried's tooth and nail syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Telecanthus, hypertelorism, strabismus, pes cavus syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Cleft palate with short stature and vertebral anomaly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Van den Bosch syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Hypohidrosis-diabetes insipidus syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Bencze syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Odonto-onycho-dermal dysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
8q22.1 microdeletion syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Primary tethered cord syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Encephalocele of vertex Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Situs inversus thoracis Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Stapes ankylosis with broad thumb and toe syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Nijmegen breakage syndrome-like disorder Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Situs inversus with laevocardia Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Acrorenal mandibular syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Absent radius, anogenital anomalies syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Notomelus Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Oro-facial digital syndrome type 14 Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Hypospadias, hypertelorism, coloboma, deafness syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Dwarfism, alopecia, pseudoanodontia, cutis laxa Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Spina bifida aperta of cervical spine Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Acropectorovertebral dysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Autosomal recessive amelia Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Holorachischisis Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Acro-oto-ocular syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Retinal detachment and occipital encephalocoele Associated morphology False Morphologically abnormal structure Inferred relationship Some 4
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Localised macrodontia Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Microcephalic primordial dwarfism Dauber type Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Anomaly of eye Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Cleidocranial dysostosis Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Hartsfield syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Moynahan's syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
CEDNIK syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Cataract, congenital heart disease, neural tube defect syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Intellectual disability, polydactyly, uncombable hair syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Accessory sternebral ossification site Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Morse Rawnsley Sargent syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Van der Woude syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Odontotrichomelic syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Infracardiac location of anomalous pulmonary venous connection to hepatic vein Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Craniosynostosis and intracranial calcification syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Short stature Brussels type Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Jaw congenital deformities Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
CLOVES syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Nasal encephalocele Associated morphology False Morphologically abnormal structure Inferred relationship Some 4
Microcephaly with albinism and digital anomaly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Oculo-palato-cerebral syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Hallermann-Streiff syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital venous malformation of skin Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Larsen-like syndrome B3GAT3 type Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Encephalomyelocele Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Craniofaciofrontodigital syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital endaural hernia Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Atresia of pulmonary artery with septal defect Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Encephalocystocele Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Chondrodysplasia with disorder of sex development syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Von Voss-Cherstvoy syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 4
Oculotrichodysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Fissured spine with hydrocephalus Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Roselli-Gulienetti ectodermal dysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Neuroectodermal melanolysosomal disease Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital cerebral hernia Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Berlin syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Intellectual disability, cataract, calcified pinna, myopathy syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Hidrotic ectodermal dysplasia Christianson Fourie type Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Alopecia, contracture, dwarfism, intellectual disability syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
2p13.2 microdeletion syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Czeizel Losonci syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Intellectual disability, myopathy, short stature, endocrine defect syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Frontal encephalocele Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Temporal encephalocele Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Native American myopathy Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital pulmonary lymphangiectasis Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Sinoatrial node dysfunction and deafness Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Frontoethmoidal encephalocele Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Brain malformation, congenital heart disease, postaxial polydactyly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Infracardiac location of anomalous pulmonary venous connections to portal system Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Single tooth macrodontia Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Tricho-oculodermovertebral syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Total anomalous pulmonary venous connection to hepatic vein Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Syndactyly, telecanthus, anogenital and renal malformation syndrome Associated morphology True Morphologically abnormal structure 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 Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Single coronary artery dividing into right coronary artery and left coronary artery Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Perlman syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Tricho-dento-osseous syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Curly hair, ankyloblepharon, nail dysplasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Pilodental dysplasia, refractive errors syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 4

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