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49755003: Morphologically abnormal structure (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
82877014 Abnormal tissue appearance en Synonym Active Entire term case insensitive SNOMED CT core module
495494014 Morphologically abnormal structure en Synonym Active Entire term case insensitive SNOMED CT core module
787468010 Morphologically abnormal structure (morphologic abnormality) en Fully specified name Active Entire term case insensitive SNOMED CT core module

5006 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Morphologically abnormal structure Is a Body structure, altered from its original anatomical structure true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital cataract with hypertrichosis and intellectual disability syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Infracardiac location of anomalous pulmonary venous connection to patent ductus venosus Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Camptodactyly and tall stature with scoliosis and hearing loss syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Multiple venous malformation of skin and mucous membrane Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Complete situs inversus with dextrocardia Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Encephalocele of orbit Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Basan syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Camptodactyly syndrome Guadalajara type 1 Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Absent tibia, polydactyly, arachnoid cyst syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Rachischisis with hydrocephalus Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Hypogonadism with prune belly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Hypodontia and nail dysgenesis Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Greither type of ectodermal dysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Cortical blindness, intellectual disability, polydactyly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Cloverleaf skull with multiple congenital anomalies syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Ectodermal dysplasia trichoodontoonychial type Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Infracardiac location of anomalous pulmonary venous connections to inferior caval vein Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Cecoureterocele Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Trichodysplasia with amelogenesis imperfecta syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Brachymorphism with onychodysplasia and dysphalangism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Cerebellar ataxia co-occurrent with ectodermal dysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Infantile spasm and broad thumb syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Paired teeth microdontia Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Mohr syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Oro-facial digital syndrome type 5 Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Peutz-Jeghers polyps of small bowel Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Frank-Ter Haar syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Macrostomia, preauricular tag, external ophthalmoplegia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Thoracolaryngopelvic dysplasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Oro-facial digital syndrome type 1 Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Lung agenesis with heart defect and thumb anomaly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Oro-facial digital syndrome type 12 Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 6
Oro-facial digital syndrome type 13 Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 5
Ectodermal dysplasia with blindness syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Brittle hair-impaired intellect-decreased fertility-short stature syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Otopalatodigital syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Otopalatodigital syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Crisponi syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Microcephalus with brachydactyly and kyphoscoliosis syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Short stature with webbed neck and congenital heart disease syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Angio-osteohypotrophic syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Oro-facial digital syndrome type 14 Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 5
Aortic valve overriding ventricular septum Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Oculocerebrofacial syndrome Kaufman type Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Heart defect and limb shortening syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Hay-Wells syndrome of ectodermal dysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Heart-hand syndrome type 2 Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Craniolenticulosutural dysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
14q11.2 microdeletion syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Total anomalous pulmonary venous connection to coronary sinus Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Sparse hair with short stature and skin anomaly syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Localized microdontia Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Oro-facial digital syndrome type 9 Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Dilated odontoma Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Renier Gabreels Jasper syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Single tooth microdontia Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Oto-palato-digital syndrome, type I Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 5
Wooly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Orofacial-digital syndrome III Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Asymmetric crying face association Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Stern Lubinsky Durrie syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Clastothrix Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Orofacial-digital syndrome IV Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Microcephalic osteodysplastic dysplasia Saul Wilson type Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Oro-facial digital syndrome type 10 Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Congenital conductive hearing loss Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Temple Baraitser syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Renal dysplasia with limb defect syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Facial dysmorphism, cleft palate, loose skin syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Fibulo-ulnar hypoplasia and renal anomalies syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Global developmental delay, osteopenia, ectodermal defect syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Relative generalized microdontia Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Trichodermodysplasia and dental alterations syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Intellectual disability, seizures, macrocephaly, obesity syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Nasofrontal encephalocele Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 5
Holoprosencephaly with caudal dysgenesis syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Microcephalic primordial dwarfism Alazami type Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Cystic leukoencephalopathy without megalencephaly Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Nasopharyngeal encephalocele Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 5
Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Aniridia and absent patella syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Oro-facial digital syndrome type 11 Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
X-linked mandibulofacial dysostosis Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Epilepsy telangiectasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4

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