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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
Congenital primary pulmonary lymphangiectasis Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Congenital abnormality of left atrium Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Zellweger syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Holmes Gang syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Disorder of neuronal migration and differentiation Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Multiple neurofibromas in neurofibromatosis Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Multiple neurofibromas in neurofibromatosis Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Amelogenesis imperfecta, pigmented hypomaturation type Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Johnson neuroectodermal syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
First arch syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital iodine deficiency syndrome of mixed type Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of bile ducts Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Enamel-renal syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of pleural folds Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Peutz-Jeghers syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Endemic cretinism Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Cervical, vaginal and external female genital anomalies Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Cervical, vaginal and external female genital anomalies Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Cervical, vaginal and external female genital anomalies Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Myeloschisis Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Myeloschisis Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Solitary ventricle of indeterminate morphology Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Cerebellar cortical dysplasia Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Dysgenesis of the brainstem Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Gollop syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Ulna fibula ray defect and brachydactyly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Multiple anterior segment anomalies Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital fusion of kidneys Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Congenital anomaly of thyroid cartilage Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Focal dermal hypoplasia Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Axial mesodermal dysplasia spectrum Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia, Strudwick type Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Bertolotti's syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of parathyroid glands Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital myopathy with abnormal subcellular organelles Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Hypospadias and epispadias Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Epiblepharon Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Leukonychia totalis Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Microphthalmia with linear skin defect syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Isolation of left common carotid artery Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Lack of ossification of scapula Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Abnormal lung lobation Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Anomalous valve of coronary sinus Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Inverted pelvis Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
11p15.4 microduplication syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Deafness, vitiligo, achalasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Anterolateral muscle band Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital portal-systemic shunt Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of presphenoid bone Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital abnormality of uterus complicating antenatal care, baby not yet delivered Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of vas deferens Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Ectodermal dysplasia trichoodontoonychial type Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Straight back syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital abnormality of tricuspid papillary muscle Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of cartilage Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Trichodental syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Trigonocephaly with broad thumb syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Faun tail syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Renal hepatic pancreatic dysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Craniomicromelic syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Anonychia with bizarre flexural pigmentation Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Ectopic pancreas in duodenum Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Anhidrotic ectodermal dysplasia with immune deficiency Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Dermodental dysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Dysmorphism, pectus carinatum, joint laxity syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Tricho-onychodental dysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Microcephalic primordial dwarfism Montreal type Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Frontonasal dysplasia sequence Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Naxos disease Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Salamon's syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Thoracolumbar spina bifida with hydrocephalus - closed Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Complete phocomelia of upper limb Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Flynn-Aird syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital deafness with labyrinthine aplasia, microtia and microdontia Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Hypohidrotic X-linked ectodermal dysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Odonto onycho dysplasia with alopecia syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 4
Odonto onycho dysplasia with alopecia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Beemer Ertbruggen syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Megacystis-megaureter syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Dyssegmental dysplasia Silverman Handmaker type Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Occipital encephalocele Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Ectodermal dysplasia, syndactyly and pili torti Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Johanson-Blizzard syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Compression of trachea and oesophagus co-occurrent and due to congenital anomaly of aortic arch Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Situs inversus abdominalis Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Robinow-like syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Relative generalised macrodontia Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Odonto-onychial dysplasia with alopecia Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Infracardiac location of anomalous pulmonary venous connection with two descending veins Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
5-amino-4-imidazole carboxamide ribosiduria Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Schinzel-Giedion syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Lethal faciocardiomelic dysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Thoracic spina bifida with hydrocephalus Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1

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