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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
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) morphologie associée (attribut) False structure anormale sur le plan morphologique 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) morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 1
Chromosome Xq28 trisomy (disorder) morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 1
Ehlers-Danlos syndrome cardiac valvular type (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Cervical myelocystocele morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Schoepf-Schulz-Passage syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Hidrotic ectodermal dysplasia syndrome (disorder) morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 3
X-linked intellectual disability with plagiocephaly syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Thoracic myelocystocele morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Oral-facial-digital syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Hypertrichosis cubiti (disorder) morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 3
Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Polysyndactyly and cardiac malformation syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Endocrine-cerebro-osteodysplasia syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Parietal encephalocele morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 3
Solitary median maxillary central incisor syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Galloway Mowat syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
15q overgrowth syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Wiedemann Steiner syndrome morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 3
Thoracic spina bifida without hydrocephalus - closed morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Opitz-Frias syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Pyknoachondrogenesis (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
ventricule droit à double sortie avec communication interventriculaire subaortique ou subaortique et subpulmonaire sans sténose pulmonaire, type de défaut septal morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 2
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 1
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Infracardiac location of anomalous pulmonary venous connection to patent ductus venosus (disorder) morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 1
Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Multiple venous malformation of skin and mucous membrane (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Autism spectrum disorder due to AUTS2 deficiency morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Complete situs inversus with dextrocardia morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 1
Encephalocele of orbit morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 2
Basan syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Camptodactyly syndrome Guadalajara type 1 (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Absent tibia, polydactyly, arachnoid cyst syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Rachischisis with hydrocephalus morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 4
Hypogonadism with prune belly syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 4
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Hypodontia and nail dysgenesis morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 4
Greither type of ectodermal dysplasia morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Cortical blindness, intellectual disability, polydactyly syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 4
Cloverleaf skull with multiple congenital anomalies syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
dysplasie ectodermique tricho-odonto-onychiale morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Infracardiac location of anomalous pulmonary venous connections to inferior caval vein (disorder) morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 1
Cecoureterocele (disorder) morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 2
Trichodysplasia with amelogenesis imperfecta syndrome (disorder) morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 1
Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 1
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Infantile spasm and broad thumb syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Paired teeth microdontia morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 1
Mohr syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
syndrome oro-facio-digital type 5 morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
HIVEP2-related intellectual disability morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Peutz-Jeghers polyps of small bowel (disorder) morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 2
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Frank-Ter Haar syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Thoracolaryngopelvic dysplasia morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Oro-facial digital syndrome type 1 (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 4
Lung agenesis with heart defect and thumb anomaly syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Oro-facial digital syndrome type 12 morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 6
Oro-facial digital syndrome type 13 morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 5
Ectodermal dysplasia with blindness syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 3
Otopalatodigital syndrome morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 3
Otopalatodigital syndrome morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 1
Crisponi syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Short stature with webbed neck and congenital heart disease syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Angioosteohypotrophic syndrome 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 5
Aortic valve overriding ventricular septum (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Oculocerebrofacial syndrome Kaufman type (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Heart defect and limb shortening syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 2
Hay-Wells syndrome of ectodermal dysplasia (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Heart-hand syndrome type 2 (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Craniolenticulosutural dysplasia (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
14q11.2 microdeletion syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Total anomalous pulmonary venous connection to coronary sinus (disorder) morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 1
Sparse hair with short stature and skin anomaly syndrome (disorder) morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 1
Localized microdontia morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 1
Oro-facial digital syndrome type 9 (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Dilated odontoma (disorder) morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 2
Renier Gabreels Jasper syndrome (disorder) morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 1
Single tooth microdontia morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 1
syndrome oto-palato-digital type 1 (trouble) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 5
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome morphologie associée (attribut) False 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 4
Orofacial-digital syndrome III morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Asymmetric crying face association (disorder) morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 2
Stern Lubinsky Durrie syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Clastothrix morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 3
Orofacial-digital syndrome IV morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1

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