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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
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Oro-facial digital syndrome type 10 (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Congenital conductive hearing loss morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Temple Baraitser syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Renal dysplasia with limb defect syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Facial dysmorphism, cleft palate, loose skin syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Global developmental delay, osteopenia, ectodermal defect syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Relative generalised microdontia morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 1
Trichodermodysplasia and dental alterations syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
SCARF syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Nasofrontal encephalocele morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 5
Holoprosencephaly with caudal dysgenesis syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 4
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Microcephalic primordial dwarfism Alazami type (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Cystic leukoencephalopathy without megalencephaly (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Nasopharyngeal encephalocele morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 5
Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Aniridia and absent patella syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Oro-facial digital syndrome type 11 (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
X-linked mandibulofacial dysostosis (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Epilepsy telangiectasia syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 4
XY type gonadal dysgenesis with associated anomalies syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 3
Isotretinoin embryopathy-like syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 4
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
syndrome de déficience intellectuelle liée à l'X-dysmorphie-atrophie cérébrale morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Thoracolumbar spina bifida without hydrocephalus - closed morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
True generalized microdontia morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 1
Oro-facial digital syndrome type 8 (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Absent thumb with short stature and immunodeficiency syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Joubert syndrome with orofaciodigital defect (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Radicular dens invaginatus (disorder) morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 2
Van den Ende-Gupta syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
syndrome de fibromatose gingivale-dysmorphie faciale morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Pili torti onychodysplasia syndrome (disorder) morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 3
Modified Johanson operation for claw toe with arthrodesis Direct morphology False structure anormale sur le plan morphologique Inferred relationship Some 1
Malan overgrowth syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Heide syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Repair of claw toe Direct morphology False structure anormale sur le plan morphologique Inferred relationship Some 1
dermato-ostéolyse type Kirghize morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Carrier of beta thalassemia (finding) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
syndrome de Marshall (trouble) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Drash syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Familial mesangial sclerosis morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Primary correction of congenital deformity of foot Direct morphology False structure anormale sur le plan morphologique Inferred relationship Some 1
Carrier of alpha thalassemia (finding) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Exstrophy of cloaca sequence morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Exstrophy of cloaca sequence morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 1
Atrioventricular septal defect - isolated ventricular component morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Severe X-linked intellectual disability Gustavson type (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Cardiomyopathy and renal anomaly syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Kohlschutter's syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Atrioventricular septal defect: atrial and ventricular components morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
XTE syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Atrioventricular septal defect with separate atrioventricular orifices (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Stickler syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Atrioventricular septal defect with ventricular component and interchordal shunting under superior bridging leaflet (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Carrier of Duchenne muscular dystrophy (finding) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Atrioventricular septal defect with ventricular imbalance consisting of dominant left ventricle and hypoplastic right ventricle (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Cyprus facial neuromusculoskeletal syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Cryptomicrotia brachydactyly syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Larsen syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Goldberg Shprintzen megacolon syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Tetralogy of Fallot with pulmonary atresia and systemic-to-pulmonary collateral artery morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Atrioventricular septal defect with atrial and ventricular components and separate atrioventricular valves (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Atrioventricular septal defect with ventricular component under superior bridging leaflet with chords to papillary muscle on right ventricular side septum (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Carrier of familial dysautonomia (finding) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Congenital nephrotic syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Carrier of hemoglobinopathy disorder (finding) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Atrioventricular septal defect with ventricular component under free floating superior bridging leaflet and chords to papillary muscle at right ventricular free wall (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Obstructed interchordal space of tricuspid chordae tendinae (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Teebi Shaltout syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Weaver Williams syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Atrioventricular septal defect with ventricular imbalance consisting of dominant right ventricle and hypoplastic left ventricle (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Dental midlines coincident and incorrect morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 1
Atrioventricular septal defect with ventricular component under superior bridging leaflet without chordal attachment to ventricular septal crest (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Craniosynostosis with facial dysmorphism and brachydactyly syndrome (disorder) morphologie associée (attribut) False structure anormale sur le plan morphologique Inferred relationship Some 1
Finnish congenital nephrotic syndrome morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Atrioventricular septal defect with common atrioventricular orifice (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Craniofacial conodysplasia syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
dysplasie olfactogénitale morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3
Hyperganglionosis morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 1
Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 2
Osteopenia, intellectual disability, sparse hair syndrome (disorder) morphologie associée (attribut) True structure anormale sur le plan morphologique Inferred relationship Some 3

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