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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
Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Haim Munk syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Myelinated nerve fibres of optic disc Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Book syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
CLAPO syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
CLAPO syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
CLAPO syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
CLAPO syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital hydrocalicosis Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Balanced coronary system Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital cyst of ovary Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Hypertrichosis cubiti Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Neuronal choristoma Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Noonan syndrome-like disorder with loose anagen hair Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Noonan syndrome-like disorder with loose anagen hair Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of external female genitalia Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Pterygium colli with intellectual disability and digital anomaly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Wildervanck syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Dyke-Davidoff-Masson syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Goldblatt Wallis syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Incomplete formation of the bony cochlea Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Incomplete ossification of interparietal bone Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital cystic disease of liver Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Neonatal cutis laxa with marfanoid phenotype Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Structural developmental anomalies of neurenteric canal Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Combined immunodeficiency with faciooculoskeletal anomalies syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Ectopic thyroid tissue Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Dermatoleukodystrophy Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Ventricular imbalance Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Bohring Opitz syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Bohring Opitz syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Zebra body myopathy Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Right ventricular outflow tract absent Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Sotos' syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital malformation syndromes affecting facial appearance Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Congenital heart disease Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Dumbbell ossification of centrum of thoracic vertebra Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Limb mammary syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Ectopic ureterocele Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Vascular malformation of inner ear Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Acro-dermato-ungual-lacrimal-tooth syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 4
Congenital abnormality of atrial septum Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Myopathy with abnormality of histochemical fibre type Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital hereditary muscular dystrophy Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Juberg Hayward syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Juberg Hayward syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Juberg Hayward syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Endocrine-cerebro-osteodysplasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Endocrine-cerebro-osteodysplasia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Mirror imaged atria Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Blepharophimosis-intellectual disability syndrome, SBBYS type Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Orofaciodigital syndrome type 11 Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Orofaciodigital syndrome type 11 Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
Orofaciodigital syndrome type 11 Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Orofaciodigital syndrome type 11 Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Congenital abnormality of great veins and coronary sinus Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital abnormality of great veins and coronary sinus Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Isolation of brachiocephalic trunk Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of parietal bone Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Glossopalatine ankylosis Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Glossopalatine ankylosis Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Glossopalatine ankylosis Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Hepatic fibrosis, renal cyst, intellectual disability syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Dolichopellic pelvis Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Facio-auriculo-vertebral spectrum Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Systemic to pulmonary collateral artery from right carotid artery Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Systemic to pulmonary collateral artery from right carotid artery Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital protrusion of tongue Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Trabecular dysgenesis Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
False anodontia Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Abnormal plantar creases Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Abnormal plantar creases Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Osteopetrosis - delayed type Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Myopathy with tubular aggregates Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Ectodermal dysplasia with tooth-nail defects Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-oesophageal fistula, renal anomalies, limb defects syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital trigger thumb Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Short stature with valvular heart disease and characteristic facies syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Solid rudimentary uterus Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Port-wine stain of skin Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Pulmonary hypertension in neurofibromatosis Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Pulmonary hypertension in neurofibromatosis Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Thoracic spina bifida Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Lumbar myelocystocele Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Congenital anomaly of the respiratory system Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Atrial septal defect through coronary sinus orifice Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Intellectual disability, balding, patella luxation, acromicria syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Floppy infant syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Atrioventricular septal defect with atrioventricular valve regurgitation through left septal commissure Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Localised congenital cutis laxa Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Primary congenital bronchomalacia Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Mehes syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 4
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of peripheral nerve Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
X-linked intellectual disability Seemanova type Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Interruption of coronary artery Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Solitary median maxillary central incisor syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Cardiac anomaly and heterotaxy syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1

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Reference Sets

Body structure foundation reference set

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