49755003: Morphologically abnormal structure (morphologic abnormality)

SNOMED CT Concept\Body structure\Body structure, altered from its original anatomical structure (morphologic abnormality)\Morphologically abnormal structure

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

Descriptions:

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 (morphologic abnormality)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Duane's syndrome of bilateral eyes (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Duane's syndrome of bilateral eyes (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Duane's syndrome of bilateral eyes (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Sacral dysgenesis	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Foster eller nyfødt påvirket af placenta- eller brystoverførsel af alkohol	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Kongenit misdannelsessyndrom med involvering af ekstremiteter	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Camptodactyly	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Vascular malformation of the nervous system	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987.	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Triphalangeal great toe	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Triphalangeal great toe	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Male subcoronal hypospadias	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of blood vessel of upper limb (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of the pelvis	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of perineum	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of carotid artery	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of face bones	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital abnormality of left atrioventricular valve in double inlet ventricle (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of upper respiratory system	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Systemic to pulmonary collateral artery connecting with central pulmonary arteries (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Systemic to pulmonary collateral artery connecting with central pulmonary arteries (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital torticollis	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Megalencephaly-capillary malformation syndrome	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital sacrococcygeal anomaly	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of body wall	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of toe	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
celoskise	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Abnormal liver lobulation	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Lack of ossification of zygomatic bone	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Female hypospadias (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Coronary sinus defect in left atrium	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Coronary sinus defect in left atrium	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as tufts of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Hydromyeli	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Hydromyeli	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Weissenbacher-Zweymuller syndrome	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Weissenbacher-Zweymuller syndrome	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Weissenbacher-Zweymuller syndrome	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	3
Myelodysplasia of spinal cord	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Autosomal recessive familial woolly hair	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Sene sekundære abnormiteter i centralnervesystemet	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
A rare primary glomerular disease characterized by the association of congenital nephrotic syndrome, early onset renal failure and ocular anomalies with microcoria and severe neurodevelopment deficits.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of female genital system	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Criss-cross heart with rightward rotation (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Ophthalmo-acromelic syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Lack of ossification of arch of cervical vertebra	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Oro-facial digital syndrome type 13	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Oro-facial digital syndrome type 13	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	4
Oro-facial digital syndrome type 13	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Oro-facial digital syndrome type 13	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Vesicular appendix of ovary	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Ectrodactyly-ectodermal dysplasia-clefting syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	4
A rare form of localized hypertrichosis characterized by hair growth near the laryngeal prominence during childhood.	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Hereditary clubbing	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital abnormality of right atrium (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Pharyngeal pituitary tissue	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Anomalies of the aorta excluding coarction	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Cranioectodermal dysplasia	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Congenital anomaly of scapula	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Meromikrosomi	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Tidlig sekundær misdannelse i centralnervesystemet	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Cavernous lymphangioma of skin	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Dysmorphism-conductive hearing loss-heart defect syndrome is a rare, multiple congenital anomalies syndrome characterized by a distinctive facial appearance (low frontal hairline, bilateral ptosis, prominent eyes, flat midface, broad, flat nares, Cupid bow upper lip vermilion, and small, low-set, posteriorly rotated ears), in addition to cleft palate, conductive hearing loss, heart defects (atrial or ventricular septal defect) and mild developmental delay/intellectual disability.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Dysmorphism-conductive hearing loss-heart defect syndrome is a rare, multiple congenital anomalies syndrome characterized by a distinctive facial appearance (low frontal hairline, bilateral ptosis, prominent eyes, flat midface, broad, flat nares, Cupid bow upper lip vermilion, and small, low-set, posteriorly rotated ears), in addition to cleft palate, conductive hearing loss, heart defects (atrial or ventricular septal defect) and mild developmental delay/intellectual disability.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Optic disc structural anomaly (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of ilium	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Postlingual non-syndromic genetic deafness	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Robin sequence	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, severe visual impairment due to ocular malformations (microphthalmos and microcornea with sclerocornea), short stature, hypotrichosis, dental anomalies, and dysmorphic facial features (such as a narrow nasal bridge with marked distal flaring and low-set, protruding ears). There have been no further descriptions in the literature since 1992.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, severe visual impairment due to ocular malformations (microphthalmos and microcornea with sclerocornea), short stature, hypotrichosis, dental anomalies, and dysmorphic facial features (such as a narrow nasal bridge with marked distal flaring and low-set, protruding ears). There have been no further descriptions in the literature since 1992.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	4
Radioulnar dysostosis	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Radioulnar dysostosis	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Lack of ossification of maxilla	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of limb	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Larsen syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Congenital web of larynx	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital anomaly of coronary artery	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Anomalies of hypothalamus	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of neck	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Left atrial appendage - right - juxtaposition	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Lumbosacral agenesis	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	3
Congenital anomaly of mandible	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Lack of ossification of fibula	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Anomalous termination of right pulmonary vein	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital alacrima is characterized by deficient lacrimation (ranging from a complete absence of tears to hyposecretion of tears) that is present from birth.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Nodular heterotopia (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital prelingual deafness	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Atrioventricular septal defect with atrioventricular valve regurgitation through left superior bridging leaflet lateral mural commissure (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	3
Aortic orifice anterior left with respect to pulmonary orifice (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Specificeret anomali i synsnervepapil	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Interrupted aortic arch distal to left subclavian artery	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of caudal vertebra	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
hypogonadisme, diabetes mellitus, alopeci, mental retardering og elektrokardiografiske anomalier	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Microdontia	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital hydroureter	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Incisor that has marked lateral borders occurring lingually.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital vesicoureterorenal reflux, bilateral	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital vesicoureterorenal reflux, bilateral	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital trigger thumb of right hand	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1

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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
2815351000005115	morfologisk abnorm struktur	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)