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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
3371000077116 structure anormale sur le plan morphologique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
495494014 Morphologically abnormal structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
621521000077113 structure anormale sur le plan morphologique (anomalie morphologique) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
787468010 Morphologically abnormal structure (morphologic abnormality) en Fully specified name Active Entire term 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

4977 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
structure anormale sur le plan morphologique est un(e) (attribut) structure modifiée sur le plan morphologique true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Duane-radial ray syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Fried's tooth and nail syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Cleft palate with short stature and vertebral anomaly syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Van den Bosch syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Hypohidrosis-diabetes insipidus syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Hemifacial hyperplasia strabismus syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Odonto-onycho-dermal dysplasia (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
microdélétion 8q22.1 morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Primary tethered cord syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Encephalocele of vertex (disorder) morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 2
Situs inversus thoracis morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 2
Stapes ankylosis with broad thumb and toe syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Nijmegen breakage syndrome-like disorder (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Situs inversus with levocardia morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 1
Acrorenal mandibular syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Absent radius, anogenital anomalies syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Notomelus morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Oro-facial digital syndrome type 14 morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 4
Hypospadias, hypertelorism, coloboma, deafness syndrome (disorder) morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 2
Dwarfism, alopecia, pseudoanodontia, cutis laxa morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Spina bifida aperta of cervical spine (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Acropectorovertebral dysplasia (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Autosomal recessive amelia (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Holorachischisis morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
syndrome acrootooculaire morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Retinal detachment and occipital encephalocele morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 4
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Localized macrodontia morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 1
Microcephalic primordial dwarfism Dauber type morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Anomaly of eye (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Cleidocranial dysostosis morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Hartsfield syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Moynahan's syndrome morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 3
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Cataract, congenital heart disease, neural tube defect syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Intellectual disability, polydactyly, uncombable hair syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Accessory sternebral ossification site morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Van der Woude syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Odontotrichomelic syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Infracardiac location of anomalous pulmonary venous connection to hepatic vein (disorder) morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 1
Craniosynostosis and intracranial calcification syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Short stature Brussels type (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Jaw congenital deformities morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 1
Congenital lipomatous overgrowth, vascular malformation, epidermal nevi, skeletal anomaly syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Nasal encephalocele morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 4
Microcephalus with albinism and digital anomaly syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Oculopalatocerebral syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Hallermann-Streiff syndrome morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 3
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Congenital venous malformation of skin (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
syndrome de Larsen-like de type B3GAT3 (beta-1,3 glucuronyltransferase 3) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
encéphalomyélocèle morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 2
Craniofaciofrontodigital syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
hernie endo-auriculaire congénitale morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 2
Atresia of pulmonary artery with septal defect morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Encephalocystocele (disorder) morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 3
Chondrodysplasia with disorder of sex development syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
DK phocomelia syndrome (disorder) morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 4
Oculotrichodysplasia (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Fissured spine with hydrocephalus morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 3
Roselli-Gulienetti ectodermal dysplasia morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Neuroectodermal melanolysosomal disease (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Congenital cerebral hernia morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 3
Berlin syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
2p13.2 microdeletion syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Intellectual disability, myopathy, short stature, endocrine defect syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
encéphalocèle frontal morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 2
Temporal encephalocele morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 3
Native American myopathy morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
lymphangiectasie pulmonaire congénitale (trouble) morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 1
Sinoatrial node dysfunction and deafness morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
encéphalocèle fronto-ethmoïdal morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 2
syndrome de malformations cérébrales-cardiopathie congénitale-polydactylie postaxiale morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Infracardiac location of anomalous pulmonary venous connections to portal system (disorder) morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 1
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Single tooth macrodontia (disorder) morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 1
Tricho-oculodermovertebral syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Total anomalous pulmonary venous connection to hepatic vein morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 1
Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique 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) morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 1
Single coronary artery dividing into right coronary artery and left coronary artery (disorder) morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 1
Perlman syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
syndrome tricho-dento-osseux (trouble) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Curly hair, ankyloblepharon, nail dysplasia syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
dysplasie pilo-dentaire morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 5
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 4

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