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

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