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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
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Associated morphology False Morphologically abnormal structure 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 Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Trisomy Xq28 Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Ehlers-Danlos syndrome cardiac valvular type Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Cervical myelocystocele Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Schoepf-Schulz-Passage syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Hidrotic ectodermal dysplasia syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
X-linked intellectual disability with plagiocephaly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Thoracic myelocystocele Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Oral-facial-digital syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Hypertrichosis cubiti Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Combined immunodeficiency with faciooculoskeletal anomalies syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Mikati Najjar Sahli syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Epilepsy, microcephaly, skeletal dysplasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Polysyndactyly and cardiac malformation syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Endocrine-cerebro-osteodysplasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
OSLAM syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Parietal encephalocele Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Solitary median maxillary central incisor syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Galloway Mowat syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Richieri Costa Pereira syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
15q overgrowth syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Wiedemann Steiner syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Thoracic spina bifida without hydrocephalus - closed Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Opitz-Frias syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Pyknoachondrogenesis Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect without pulmonary stenosis - ventricular septal defect type Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Congenital cataract with hypertrichosis and intellectual disability syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Infracardiac location of anomalous pulmonary venous connection to patent venous duct Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Camptodactyly and tall stature with scoliosis and hearing loss syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Multiple venous malformation of skin and mucous membrane Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Autism spectrum disorder due to AUTS2 deficiency Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Complete situs inversus with dextrocardia Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Encephalocele of orbit Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Basan syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Camptodactyly syndrome Guadalajara type 1 Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Absent tibia, polydactyly, arachnoid cyst syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Rachischisis with hydrocephalus Associated morphology False Morphologically abnormal structure Inferred relationship Some 4
Hypogonadism with prune belly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Hypodontia and nail dysgenesis Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Greither type of ectodermal dysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Cortical blindness, intellectual disability, polydactyly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Cloverleaf skull with multiple congenital anomalies syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Ectodermal dysplasia trichoodontoonychial type Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Infracardiac location of anomalous pulmonary venous connections to inferior caval vein Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Cecoureterocele Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Trichodysplasia with amelogenesis imperfecta syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Brachymorphism with onychodysplasia and dysphalangism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Cerebellar ataxia and ectodermal dysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Infantile spasm and broad thumb syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Paired teeth microdontia Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Mohr syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Orofaciodigital syndrome type 5 Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Peutz-Jeghers polyps of small bowel Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Frank-Ter Haar syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Macrostomia, preauricular tag, external ophthalmoplegia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Thoracolaryngopelvic dysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Oro-facial digital syndrome type 1 Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Lung agenesis with heart defect and thumb anomaly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Oro-facial digital syndrome type 12 Associated morphology True Morphologically abnormal structure Inferred relationship Some 6
Oro-facial digital syndrome type 13 Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
Ectodermal dysplasia with blindness syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
BIDS syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Otopalatodigital syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Otopalatodigital syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Crisponi syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Microcephaly with brachydactyly and kyphoscoliosis syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Short stature with webbed neck and congenital heart disease syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Angioosteohypotrophic syndrome 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 5
Aortic valve overriding ventricular septum Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Oculocerebrofacial syndrome Kaufman type Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Heart defect and limb shortening syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Lymphopenic agammaglobulinaemia - short-limbed dwarfism syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Hay-Wells syndrome of ectodermal dysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Heart-hand syndrome type 2 Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Craniolenticulosutural dysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
14q11.2 microdeletion syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Total anomalous pulmonary venous connection to coronary sinus Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Sparse hair with short stature and skin anomaly syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Localised microdontia Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Orofaciodigital syndrome type 9 Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Dilated odontoma Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Renier Gabreels Jasper syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Single tooth microdontia Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Oto-palato-digital syndrome, type I Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Orofacial-digital syndrome III Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Asymmetric crying face association Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Stern Lubinsky Durrie syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Clastothrix Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Orofacial-digital syndrome IV Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1

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