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
Congenital thoracostenosis	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital anomaly of male urogenital tract (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Infundibulopelvic stenosis multicystic kidney syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Camptodactyly-little finger	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Branchial cleft external sinus	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	4
Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Liver hyperplasia	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Kongenitte morfologiske hårforstyrrelser	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital muscular hypertrophy-cerebral syndrome	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Fibrous skin tumor of tuberous sclerosis	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Fibrous skin tumor of tuberous sclerosis	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992.	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital cataract, sensorineural hearing loss, developmental delay with variable degrees of intellectual disability, seizures, short stature, brachycephaly, and dysmorphic facial features (such as flat facial appearance, ptosis, short nasal tip, long philtrum, low-set and posteriorly rotated ears, and small mouth). Additional reported manifestations are skeletal abnormalities, nail dystrophy, mammary gland hypoplasia, and autism spectrum disorder.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Spina bifida of sacral region (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Congenital anomaly of lacrimal gland	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital abnormality of tricuspid chordae tendinae (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of pharynx	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Multi-core congenital myopathy	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Aganglionosis of Auerbach's plexus	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
RAPADILINO syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Dysgenesis of lacrimal punctum (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare malformation syndrome characterized by generalized multiple steatocystomas and natal teeth.	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	3
Familial hypospadias of penis (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of pituitary gland (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Abnormal relationship of right ventricle to left ventricle	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Emery-Dreifuss muscular dystrophy	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
myksomatose i hjerteklap	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
myksomatose i hjerteklap	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Von Hippel-Lindau syndrome	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Von Hippel-Lindau syndrome	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Lack of ossification of sternebra	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Deventer's pelvis	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Subaortic infundibulum	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Robinow-like syndrome	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
hemicentrisk centrum i halshvirvels corpus vertebrae	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Vascular neurocutaneous syndrome	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Vascular neurocutaneous syndrome	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Myxedematous form of cretinism	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital anomaly of rib cartilage	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Periventricular leucomalacia	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Absent atrioventricular connection with straddling valve	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomalies of elbow and upper arm	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital anomalies of elbow and upper arm	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare developmental defect during embryogenesis mainly characterized by severe intellectual disability, short stature, hypogonadism, and distinct facial dysmorphism (including trigonocephaly, prominent forehead, asymmetric and flat face, hypertelorism, epicanthus, downslanting palpebral fissures, ptosis, low-set angulated ears, small mouth, high-arched/cleft palate crowded teeth, microretrognathia), as well as slender hands and/or feet. Variable additional features may include pterygia, hypoplastic nipples, cardiac anomaly, distal muscular wasting, limb contractures, skeletal anomalies (e.g. scoliosis, pectus excavatum, bilateral clubfeet), hypothyroidism, seizures, and cerebral anomalies. Puberty may be delayed.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
A rare developmental defect during embryogenesis mainly characterized by severe intellectual disability, short stature, hypogonadism, and distinct facial dysmorphism (including trigonocephaly, prominent forehead, asymmetric and flat face, hypertelorism, epicanthus, downslanting palpebral fissures, ptosis, low-set angulated ears, small mouth, high-arched/cleft palate crowded teeth, microretrognathia), as well as slender hands and/or feet. Variable additional features may include pterygia, hypoplastic nipples, cardiac anomaly, distal muscular wasting, limb contractures, skeletal anomalies (e.g. scoliosis, pectus excavatum, bilateral clubfeet), hypothyroidism, seizures, and cerebral anomalies. Puberty may be delayed.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Congenital renal failure	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital sternomastoid tumour	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Lumbosacral prespondylolisthesis	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Lumbosacral prespondylolisthesis	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Lumbar spina bifida without hydrocephalus - open	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Overriding tricuspid valve (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
tredobbelt nyreanlæg	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Muscle eye brain disease	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Muscle eye brain disease	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Type 2 lissencephaly	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Café-au-lait macules with pulmonary stenosis (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Café-au-lait macules with pulmonary stenosis (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Floating gallbladder	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Cleft leaflet of mitral valve	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital trigger finger of left hand (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of bronchus	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Transverse arrest carpal level	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Transverse arrest carpal level	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital abnormality of nose and nasopharynx	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital abnormality of systemic artery	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of trunk	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital strabismus	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymmetry, mild developmental delay, hemimegalencephaly and facial dysmorphism (hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia).	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Branchial cleft internal sinus	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Polycoria	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Double outlet right ventricle with intact ventricular septum (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac and skeletal (hypoplastic thumbs and first metacarpals) abnormalities.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac and skeletal (hypoplastic thumbs and first metacarpals) abnormalities.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Dentate dysplasia	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Dentate dysplasia	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Anomalies of cerebellum	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Prune belly syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Split spinal cord malformation (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Split spinal cord malformation (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
High anorectal malformation	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Atrioventricular septal defect with restrictive ventricular component (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital abnormality of supraaortic branch of thoracic aorta (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (including nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (including nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (including nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Abnormal left ventricular muscle band	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
X-linked mental retardation, Miles-Carpenter type is characterized by severe intellectual deficit, microcephaly, exotropia and low digital arches.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Hemicardia	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Imperforate ventriculoarterial valve	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Venous anomaly of umbilical cord	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital crossed toes	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Ovarian dysgenesis	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital abnormality of vein	Associated morphology	True	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)