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49755003: Morphologically abnormal structure (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
82877014 Abnormal tissue appearance en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
495494014 Morphologically abnormal structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
787468010 Morphologically abnormal structure (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3371000077116 structure anormale sur le plan morphologique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5035 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Morphologically abnormal structure (morphologic abnormality) Is a Morphologically altered structure true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Carrier of muscular dystrophy (finding) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Papular epidermal naevi with skyline basal cell layers syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Carrier of von Willebrand disease (finding) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Amelogenesis imperfecta, hypocalcification type Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Pterygium colli with intellectual disability and digital anomaly syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Ehlers-Danlos syndrome musculocontractural type (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Hypotonia, speech impairment, severe cognitive delay syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Radio-renal syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Ponseti manipulation Direct morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Oto-palato-digital syndrome, type II Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 5
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
15q overgrowth syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Unipartite right ventricle (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Atrioventricular septal defect with ventricular component under superior bridging leaflet with chords at crest ventricular septum (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Primary correction of clubfoot (procedure) Direct morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Prominent valve of inferior vena cava Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Short rib polydactyly syndrome type I (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Sandman-Andra syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Temtamy syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital dysplasia of right lobe of lung co-occurrent with congenital vascular malformation (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
5p13 microduplication syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Atrioventricular septal defect - ventricular component Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Atrioventricular septal defect with atrioventricular valve regurgitation (disorder) Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Carrier of hemoglobinopathy C disorder (finding) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Cervical spina bifida with hydrocephalus - open Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Sacral spina bifida with hydrocephalus - open (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Cervical spina bifida with hydrocephalus - closed Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Spina bifida with hydrocephalus - open Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Lumbar spina bifida with hydrocephalus - closed Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Sacral spina bifida with hydrocephalus - closed (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Lumbar spina bifida with hydrocephalus - open Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Lumbar spina bifida with hydrocephalus Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Ovotestis Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Moon's molar teeth Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Infection causing congenital anomaly Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Hutchinson's teeth Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Anomaly of fetal kidney Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
RAB18, member RAS oncogene family deficiency (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Warburg micro syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Warburg micro syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Vestibular neuronitis of left inner ear (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Bilateral vestibular neuronitis of inner ears Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Bilateral vestibular neuronitis of inner ears Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Vestibular neuronitis of right inner ear (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
X-linked intellectual disability, craniofacioskeletal syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Postaxial polydactyly, dental, vertebral anomalies syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Postaxial polydactyly, dental, vertebral anomalies syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Thakker Donnai syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia Genevieve type (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Zechi Ceide syndrome Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Zechi Ceide syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Zechi Ceide syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Hydrocephalus, blue sclera, nephropathy syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Hydrocephalus, blue sclera, nephropathy syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Congenital lethal myopathy Compton North type Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Xeroderma pigmentosum and Cockayne syndrome complex (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Papillon-Lefèvre syndrome Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Facial dysmorphism, conductive hearing loss, heart defect syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Lethal congenital contracture syndrome type 5 Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Haim Munk syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Lack of ossification of auditory ossicles Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Lack of ossification of vomer Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
CK syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Lack of ossification of mandible Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Lack of ossification of premaxilla Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Multiple lentigines syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Lack of ossification of pubis Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Cervical spinal hydromeningocele Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Craniosynostosis and dental anomalies syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Roifman syndrome (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Thoracic spina bifida without hydrocephalus - open Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Lack of ossification of supraoccipital bone (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Thoracic spina bifida with hydrocephalus - open Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Discontinuity between mitral valve and pulmonary valve (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
Quadricuspid pulmonary valve Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Congenital abnormality of arterial valves Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Lack of ossification of tympanic anulus Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4
Right-left orientation of bicuspid pulmonary valve (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Congenital fusion of pulmonary valve segment Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Anterior-posterior orientation of bicuspid pulmonary valve (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Bicuspid pulmonary valve Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Unicuspid aortic valve (disorder) Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Commissural fusion of pulmonary valve Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 2
Sacral agenesis Associated morphology False Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 3
9q31.1q31.3 microdeletion syndrome Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 1
Lack of ossification of basisphenoid bone Associated morphology True Morphologically abnormal structure (morphologic abnormality) Inferred relationship Some 4

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