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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
Erythrokeratoderma Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Acquired palmoplantar keratosis Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Erythrokeratoderma progressiva of Gottron Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Leukoencephalopathy, palmoplantar keratoderma syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Keratosis Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Focal acral hyperkeratosis Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Congenital ichthyosiform erythroderma Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Thin ribs, tubular bones, dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
RIDDLE syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Persistent Eustachian valve Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Rhinocheiloplasty repair for cleft lip Direct morphology False Morphologically abnormal structure Inferred relationship Some 2
Closure of coronary sinus atrial septal defect Direct morphology True Morphologically abnormal structure Inferred relationship Some 2
Rehbein procedure Direct morphology True Morphologically abnormal structure Inferred relationship Some 1
Spina bifida aperta of thoracic spine Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Sacroperineal pull-through Direct morphology True Morphologically abnormal structure Inferred relationship Some 1
Cutback of covered anus Direct morphology True Morphologically abnormal structure Inferred relationship Some 2
Correction of congenital deformity Direct morphology False Morphologically abnormal structure Inferred relationship Some 1
High lumbar myelomeningocele Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Intrauterine fetal defect correction Direct morphology True Morphologically abnormal structure Inferred relationship Some 1
Repair of lop ear Direct morphology True Morphologically abnormal structure Inferred relationship Some 1
Low lumbar myelomeningocele Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Posterior sagittal anorectoplasty Direct morphology True Morphologically abnormal structure Inferred relationship Some 2
Removal of colorectal septum Direct morphology True Morphologically abnormal structure Inferred relationship Some 2
Patching of coronary sinus atrial septal defect Direct morphology True Morphologically abnormal structure Inferred relationship Some 2
Repair of congenital heart defect Direct morphology True Morphologically abnormal structure Inferred relationship Some 1
Spina bifida aperta of cervical spine Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
V-Y anoplasty Direct morphology True Morphologically abnormal structure Inferred relationship Some 2
Correction of congenital anorectal malformation Direct morphology True Morphologically abnormal structure Inferred relationship Some 1
Abdominosacroperineal pull-through Direct morphology True Morphologically abnormal structure Inferred relationship Some 1
Reanastomosis of rectum to anal canal for correction of congenital atresia of rectum Direct morphology False Morphologically abnormal structure Inferred relationship Some 4
Myelomeningocoele and hydrocephalus Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Grafting of palate for cleft palate repair Direct morphology True Morphologically abnormal structure Inferred relationship Some 2
Correction of congenital deformity of great vessels Direct morphology False Morphologically abnormal structure Inferred relationship Some 1
Spina bifida aperta of lumbar spine Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Duhamel operation, abdominoperineal pull-through Direct morphology True Morphologically abnormal structure Inferred relationship Some 1
Verloes Bourguignon syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Acquired anomaly of mouth Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Hypotrichosis and deafness syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
X-linked intellectual disability due to GRIA3 mutations Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Conductive deafness, malformed external ear syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Heart defect, tongue hamartoma, polysyndactyly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
External auditory canal atresia, vertical talus, hypertelorism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Abnormal communication Is a True Morphologically abnormal structure Inferred relationship Some
Vascular malformation Is a True Morphologically abnormal structure Inferred relationship Some
Melnick-Needles syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Hydromeningomyelocele Associated morphology False Morphologically abnormal structure Inferred relationship Some 5
Hydromeningomyelocele Associated morphology False Morphologically abnormal structure Inferred relationship Some 6
Lumbar meningomyelocele Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
Lumbar meningomyelocele Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Myelomeningocele without hydrocephalus Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Lipomyelomeningocele Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Meningomyelocele Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Meningomyelocele Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
Thoracic meningomyelocele Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Thoracic meningomyelocele Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
Cervical meningomyelocele Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
Cervical meningomyelocele Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Craniorhiny Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital septation Is a True Morphologically abnormal structure Inferred relationship Some
Congenital hypersegmentation Is a True Morphologically abnormal structure Inferred relationship Some
Trilobed structure Is a True Morphologically abnormal structure Inferred relationship Some
Bilobed structure Is a True Morphologically abnormal structure Inferred relationship Some
Bronchopulmonary collateral artery Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Congenital vesicoureterorenal reflux, bilateral Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Congenital vesicoureterorenal reflux, bilateral Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Multiple congenital anomalies, hypotonia, seizures syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Cobblestone lissencephaly without muscular or ocular involvement Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Hypersensitivity keratopathy of bilateral eyes caused by staphylococcus Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Hypersensitivity keratopathy of right eye caused by staphylococcus Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of right optic disc Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Bilateral congenital anomaly of optic disc Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Bilateral congenital anomaly of optic disc Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital anomaly of left optic disc Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Arthrogryposis and ectodermal dysplasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Developmental delay, facial dysmorphism syndrome due to MED13L deficiency Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Stimmler syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Pfeiffer Palm Teller syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Cerebral-retinal arteriovenous aneurysm Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Osteopathia striata, pigmentary dermopathy, white forelock syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Duplex kidney with reflux in one ureter Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Duplex kidney with reflux in both ureters Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Myelomeningocoele and hydrocephalus Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
Aneurysm osteoarthritis syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Lipomyelomeningocele Associated morphology False Morphologically abnormal structure Inferred relationship Some 5
Muscle eye brain disease with bilateral multicystic leukodystrophy Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
Muscle eye brain disease with bilateral multicystic leukodystrophy Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Fetal spina bifida Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Majeed syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
21q22.11q22.12 microdeletion syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Meningomyelocele of lumbosacral spine Associated morphology True Morphologically abnormal structure Inferred relationship Some 6
Meningomyelocele of lumbosacral spine Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Global developmental delay, lung cysts, overgrowth, Wilms tumour syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Hypersensitivity keratopathy of left eye caused by staphylococcus Associated morphology False Morphologically abnormal structure Inferred relationship Some 1

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