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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
Multiple anterior segment anomalies Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Fusion of kidneys Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Congenital anomaly of thyroid cartilage Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Focal dermal hypoplasia Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Axial mesodermal dysplasia spectrum Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Spondyloepimetaphyseal dysplasia, Strudwick type Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Bertolotti's syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Congenital anomaly of parathyroid glands Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Congenital myopathy with abnormal subcellular organelles Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Hypospadias and epispadias Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Epiblepharon Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Leukonychia totalis Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Microphthalmia with linear skin defect syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Isolation of left common carotid artery Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Lack of ossification of scapula Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Abnormal lung lobation Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Anomalous valve of coronary sinus Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Inverted pelvis Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
11p15.4 microduplication syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Deafness, vitiligo, achalasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Anterolateral muscle band Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Congenital portal-systemic shunt Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Congenital anomaly of presphenoid bone Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Congenital abnormality of uterus complicating antenatal care, baby not yet delivered Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Congenital anomaly of vas deferens Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Ectodermal dysplasia trichoodontoonychial type Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Straight back syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Congenital abnormality of tricuspid papillary muscle Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Congenital anomaly of cartilage Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Trichodental syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Trigonocephaly with broad thumb syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Faun tail syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Renal hepatic pancreatic dysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Craniomicromelic syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Anonychia with bizarre flexural pigmentation Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Ectopic pancreas in duodenum Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Anhidrotic ectodermal dysplasia with immune deficiency Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Dermodental dysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Dysmorphism, pectus carinatum, joint laxity syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Tricho-onychodental dysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Microcephalic primordial dwarfism Montreal type Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Frontonasal dysplasia sequence Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Salamon's syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Thoracolumbar spina bifida with hydrocephalus - closed Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Complete phocomelia of upper limb Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Flynn-Aird syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Congenital deafness with labyrinthine aplasia, microtia and microdontia Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Hypohidrotic X-linked ectodermal dysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Odonto onycho dysplasia with alopecia syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Odonto onycho dysplasia with alopecia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Hydrocephalus, cardiac malformation, dense bone syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Megacystis-megaureter syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Dyssegmental dysplasia Silverman Handmaker type Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Occipital encephalocele Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Ectodermal dysplasia, syndactyly and pili torti Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Johanson-Blizzard syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Compression of trachea and esophagus co-occurrent and due to congenital anomaly of aortic arch Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Situs inversus abdominalis Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Robinow-like syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Relative generalized macrodontia Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Odonto-onychial dysplasia with alopecia Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 4
Infracardiac location of anomalous pulmonary venous connection with two descending veins Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
5-amino-4-imidazole carboxamide ribosiduria Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Schinzel-Giedion syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Lethal faciocardiomelic dysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Thoracic spina bifida with hydrocephalus Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Duane-radial ray syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Fried's tooth and nail syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Telecanthus, hypertelorism, strabismus, pes cavus syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Cleft palate with short stature and vertebral anomaly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Van den Bosch syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Hypohidrosis-diabetes insipidus syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Hemifacial hyperplasia strabismus syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Odonto-onycho-dermal dysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
8q22.1 microdeletion syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Primary tethered cord syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Encephalocele of vertex Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Situs inversus thoracis Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Stapes ankylosis with broad thumb and toe syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Nijmegen breakage syndrome-like disorder Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Situs inversus with levocardia Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Acrorenal mandibular syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 1
Absent radius, anogenital anomalies syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Notomelus 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 4
Hypospadias, hypertelorism, coloboma, deafness syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Dwarfism, alopecia, pseudoanodontia, cutis laxa Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2
Spina bifida aperta of cervical spine Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Acropectorovertebral dysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 3
Autosomal recessive amelia Associated morphology True Morphologically abnormal structure Inferred relationship Existential restriction modifier 2

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