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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
Lack of ossification of mandible Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Lack of ossification of premaxilla Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Multiple lentigines syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Lack of ossification of pubis Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Cervical spinal hydromeningocele Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Craniosynostosis and dental anomalies syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Xylosyltransferase 1 congenital disorder of glycosylation Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Intellectual disability, facial dysmorphism, hand anomalies syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Intellectual disability, facial dysmorphism, hand anomalies syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Roifman syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Thoracic spina bifida without hydrocephalus - open Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Lack of ossification of supraoccipital bone Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Thoracic spina bifida with hydrocephalus - open Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Discontinuity between mitral valve and pulmonary valve Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Quadricuspid pulmonary valve Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital abnormality of arterial valves Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Lack of ossification of tympanic anulus Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Right-left orientation of bicuspid pulmonary valve Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital fusion of pulmonary valve segment Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Anterior-posterior orientation of bicuspid pulmonary valve Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Bicuspid pulmonary valve Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Unicuspid aortic valve Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Commissural fusion of pulmonary valve Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Sacral agenesis Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
9q31.1q31.3 microdeletion syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Lack of ossification of basisphenoid bone Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Acommissural unicuspid aortic valve Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Lack of ossification of lacrimal bone Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Congenital abnormality of cardiac ventricle Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Commissural fusion of aortic valve Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Accessory tissue on pulmonary valve cusp Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Lack of ossification of premaxilla Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Quadricuspid aortic valve Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Unicommissural unicuspid aortic valve Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Lack of ossification of presphenoid bone Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Rhinocephaly Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
13q12.3 microdeletion syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
14q24.1q24.3 microdeletion syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Hutchinson's triad Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Tapered teeth Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Developmental anomaly of root of tooth Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Robinow syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Developmental abnormality of tooth size and form Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Type II arteriovenous malformation of spinal cord Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Type III arteriovenous malformation of spinal cord Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Otomandibular dysostosis Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Developmental abnormality of cusp of tooth Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Developmental anomaly of crown and root formation Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Temporo-auro-mandibular dysostosis Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Developmental anomaly of tooth Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Chudley McCullough syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Bilateral congenital malformation of external ears Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Bilateral congenital malformation of external ears Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Craniofacial dysplasia osteopenia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Craniofacial dysplasia osteopenia syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Genitopalatocardiac syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Genitopalatocardiac syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Flat face, microstomia, ear anomaly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Flat face, microstomia, ear anomaly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Late-onset localised junctional epidermolysis bullosa, intellectual disability syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Pitt Hopkins-like syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Emery Nelson syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Emery Nelson syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Ataxia, photosensitivity, short stature syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Bilateral congenital malformation of ears Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Bilateral congenital malformation of ears Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Single left ventricle Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Osteogenesis imperfecta with blue sclerae AND normal teeth Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Single right ventricle Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
NPHP3-related Meckel-like syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Myelocele with hydrocephalus Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Multiple congenital anomalies, hypotonia, seizures syndrome type 2 Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Progeroid and marfanoid aspect, lipodystrophy syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Leukonychia totalis, trichilemmal cysts, ciliary dystrophy syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Sebaceous naevus, central nervous system malformations, aplasia cutis congenita, limbal dermoid, pigmented naevus syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Dandy-Walker syndrome with spina bifida Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Epidural intracranial abscess Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Intellectual disability, severe speech delay, mild dysmorphism syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Bilateral congenital overriding toes of feet Associated morphology False Morphologically abnormal structure Inferred relationship Some 5
Congenital overriding toes of right foot Associated morphology False Morphologically abnormal structure Inferred relationship Some 3

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