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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
Familial multiple naevi flammei Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Duane's syndrome, type 1 Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Duane's syndrome, type 1 Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Bilateral patent ductus arteriosus Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Coarctation of right pulmonary artery Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Periodontitis co-occurrent with Cohen syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Seaver Cassidy syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Seaver Cassidy syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Seaver Cassidy syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Lack of ossification of centrum of cervical vertebra Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Phakomatosis cesioflammea Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Phakomatosis cesioflammea Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Phakomatosis cesioflammea Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Congenital J shaped sella turcica Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Microlissencephaly micromelia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Microlissencephaly micromelia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Leptomyelolipoma Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Bulbus cordis and cardiac septal closure anomalies Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Bulbus cordis and cardiac septal closure anomalies Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Craniofrontonasal dysplasia Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Vestigial gastrointestinal remnant Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Vestigial gastrointestinal remnant Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Atrioventricular septal defect with atrioventricular valve regurgitation through right inferior bridging leaflet inferior mural commissure Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Acrocephalopolydactyly Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Acrocephalopolydactyly Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Smith-Lemli-Opitz syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Odonto-tricho-ungual-digito-palmar syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Congenital anomaly of mitral valve Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Celosomus Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Irido-trabecular dysgenesis Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of nasal bone Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Septo-optic dysplasia sequence Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Incontinentia pigmenti syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of cerebrum Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Double outlet right ventricle with subpulmonary ventricular septal defect Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Double outlet right ventricle with subaortic ventricular septal defect Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Congenital billowing of mitral valve leaflet Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Hidrotic ectodermal dysplasia Halal type Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Hidrotic ectodermal dysplasia Halal type Associated morphology False Morphologically abnormal structure Inferred relationship Some 4
Hidrotic ectodermal dysplasia Halal type Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Congenital abnormality of atrioventricular valve papillary muscle in atrioventricular septal defect Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Braddock syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Criss-cross heart with leftward rotation Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital ureteric valves Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital deformity of right finger Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of hair Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Intracardiac location of anomalous pulmonary venous connection to midline with isomeric atria Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Arterial anomaly of umbilical cord Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Fryns syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital cystic eyeball Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Gonadal dysgenesis Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Nephrosis, deafness, urinary tract, digital malformation syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Facial milia, lobate tongue, lingual and labial frenula syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Mobile caecum Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Congenital tarsal kink Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of valve of vein Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Port-wine stain with associated anomalies Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Stenosis of systemic to pulmonary artery collateral artery Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Stenosis of systemic to pulmonary artery collateral artery Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Congenital anomaly of ischium Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Rutland ciliary disorientation syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Hidrotic ectodermal dysplasia Christianson Fourie type Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Hidrotic ectodermal dysplasia Christianson Fourie type Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of brain Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Common atrioventricular valve in functionally univentricular heart Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Common atrioventricular valve in functionally univentricular heart Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Interruption of aortic arch distal to subclavian artery Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Pseudo-polycoria Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of musculoskeletal system Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Multiple congenital anomalies of fetus Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Benign congenital hypotonia Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Cernunnos-XLF deficiency Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital deformity of right lower limb Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of metacarpal bone Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Orofaciodigital syndrome type 10 Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Orofaciodigital syndrome type 10 Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Orofaciodigital syndrome type 10 Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Multiple malformation syndrome with limb defect as major feature Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Allemann's syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Facioscapulohumeral muscular dystrophy Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Congenital trigger thumb of left hand Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Defect of telencephalic division Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Defect of telencephalic division Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Duane's syndrome, type 2 Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Duane's syndrome, type 2 Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Specific mixed vascular syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Glycogenosis with glucoaminophosphaturia Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Bilateral closed arterial ducts Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Kleefstra syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Craniofacial dyssynostosis syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Rudimentary uterus in male Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Alopecia, contracture, dwarfism, intellectual disability syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Alopecia, contracture, dwarfism, intellectual disability syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Congenital mandibular asymmetry Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Ambiguous genitalia Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of pulmonary artery Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Lack of ossification of centrum of lumbar vertebra Associated morphology True Morphologically abnormal structure Inferred relationship Some 2

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