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
A rare, severe, genetic, intestinal disease characterized by congenital absence of heparan sulfate from small intestine epithelium manifesting with secretory diarrhea and massive enteric protein loss. Patients present intolerance to enteral feeds during the first few weeks to months of life. Apart from absence of heparan sulfate from the basolateral surface of small intestine enterocytes, small bowel biopsy is otherwise normal.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Cleidocranial dysostosis	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Mesonephric cyst	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Arterial malformation	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of exoccipital bone	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Nemaline myopathy (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Hydatid cyst of Morgagni - male	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Amegakaryocytic thrombocytopenia with congenital malformation	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Kagami-Ogata syndrome is a rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoscoliosis, joint contractures, diastasis recti, muscular hypotonia. There is increased risk of hepatoblastoma.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Sparse hair with short stature and skin anomaly syndrome	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	3
Juvenile pelvis	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Spina bifida with stenosis of aqueduct of Sylvius	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Scapulohumeral muscular dystrophy	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital anomaly of musculoskeletal structure of trunk	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Ectodermal dysplasia with hair-tooth defects	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures.	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	4
Major systemic to pulmonary collateral artery supplying unknown zone of distribution	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Major systemic to pulmonary collateral artery supplying unknown zone of distribution	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of ovary	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
False tendon - heart	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. A few cases of complete bilateral cryptophthalmia have been described.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital malformation	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Dentinogenesis imperfecta - Shield's type III	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Retrosternal thyroid gland	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Hydromyelia	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Hydromyelia	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Congenital tracheal collapse (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Synophrys	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Synophrys	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
A distinct form of Crouzon disease associated with acanthosis nigricans caused by a specific mutation (p.Ala391Glu) in the transmembrane domain of FGFR3. The disease is transmitted in an autosomal dominant manner with variable penetrance.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital anomaly of the peripheral nervous system	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Cockayne syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital buried penis (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). Hypotonia, growth and developmental delay, seizures, and joint limitation are also reported.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). Hypotonia, growth and developmental delay, seizures, and joint limitation are also reported.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare group of multiple congenital anomalies/dysmorphic syndrome characterized by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogenous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Odontomicronychial ectodermal dysplasia (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Fetal toluene syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital systemic venous atrium	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of fibula (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Manitoba oculotrichoanal syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Autism and facial port-wine stain syndrome	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of ureter and renal pelvis	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital anomaly of ureter and renal pelvis	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognathism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Defect of skull ossification	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
MVRCS association	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of tongue, salivary gland AND/OR pharynx	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Flat palate	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of the kidney	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Uterus bicameratus vetularum	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Renal pelvis and ureter obstructive defects	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Anorectal anomaly	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Pelvis plana	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment).	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	4
Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment).	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	5
Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment).	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment).	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare, syndromic, inherited retinal disorder characterized by cone-rod type congenital amaurosis, severe retinal dystrophy leading to visual impairment and profound photophobia (without night blindness), and trichomegaly (bushy eyebrows with synophrys, excessive facial and body hair including marked circumareolar hypertrichosis). There have been no further descriptions in the literature since 1989.	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Abnormal course of aortic arch (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Dyssegmental dysplasia with glaucoma syndrome	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Ectopia cordis	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital abnormality of liver and/or biliary tract (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Euryblepharon (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Andersen Tawil syndrome (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Andersen Tawil syndrome (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Dysmorphism	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Lack of ossification of hyoid bone	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
A rare neurocutaneous syndrome characterized by the association of cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia) abnormalities. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behavior and bipolar disorder have also been reported.	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	3
Congenital anomaly of nose	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Simpson Golabi Behmel syndrome type 2	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Congenital pulmonary lymphatic dysplasia syndrome (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Brachypellic pelvis	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of fetal head bones	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Embryotoxon	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare, genetic, syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, facial dysmorphism (including a long face, deep-set eyes, narrow-based, broad nose with nostril colobomata, mandibular prognathism), hypergonadotrophic hypogonadism, eunuchoid habitus, diabetes mellitus type 1, and epilepsy. There have been no further descriptions in the literature since 1990.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Autosomal dominant muscular dystrophy not predominantly limb girdle	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Double orifice of tricuspid valve	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Double orifice of tricuspid valve	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two siblings and characterised by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital anomaly of larynx	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of anterior chamber of eye	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Penile hypospadias (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Severe X-linked myotubular myopathy (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Bilaterale atrier	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Coarctation of pulmonary artery	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Neuroectodermal endocrine syndrome	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Neuroectodermal endocrine syndrome	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital anomaly of spine	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of choroid	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of bone of shoulder girdle (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of middle ear	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis.	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)