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
Spina bifida aperta of lumbar spine (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	4
Duhamel operation, abdominoperineal pull-through (procedure)	Direct morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	4
Acquired anomaly of mouth (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A syndromic genetic deafness with characteristics of erythrokeratoderma, hypotrichosis, nail dystrophy and sensorineural hearing loss. Erythema, recurrent skin infections and mucositis have also been associated.	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
A rare genetic X-linked syndromic intellectual disability disorder with characteristics of moderate to severe intellectual disability associated with epilepsy, short stature, autistic features and behavioural problems, such as self- injury and aggressive outbursts. Observed facial dysmorphism includes brachycephaly, prominent supraorbital ridges, and deep-set eyes. Additional variable manifestations include malposition of feet, asthenic habitus, hyporeflexia, bowel occlusions, hydronephrosis, horseshoe kidney, delayed motor development and disturbed sleep-wake cycle. Caused by mutation in the GRIA3 gene.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A very rare syndromic genetic deafness with characteristics of mild to moderate conductive hearing loss, dysmorphic pinnae and lip pits or dimples. The pinnae are usually small, cup-shaped with helix folded forward, and hearing loss is associated with malformed ossicles and displacement of the external auditory canal.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare genetic multiple congenital anomalies syndrome with characteristics of congenital heart defects (for example coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly. There is evidence the disease is caused by compound heterozygous mutation in the WDPCP gene on chromosome 2p15.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of the triad: congenital bilateral symmetrical subtotal external auditory canal atresia, bilateral vertical talus and increased interocular distance.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Abnormal communication	Is a	True	Morphologically abnormal structure	Inferred relationship	Some
Vascular malformation (morphologic abnormality)	Is a	True	Morphologically abnormal structure	Inferred relationship	Some
Melnick-Needles syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Hydromeningomyelocele	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	5
Hydromeningomyelocele	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	6
Lumbar meningomyelocele	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	5
Lumbar meningomyelocele	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	4
Myelomeningocele without hydrocephalus (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Lipomyelomeningocele	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	3
Meningomyelocele (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	4
Meningomyelocele (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	5
Thoracic meningomyelocele	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	4
Thoracic meningomyelocele	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	5
Cervical meningomyelocele	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	5
Cervical meningomyelocele	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	4
A rare frontonasal dysplasia malformation syndrome with characteristics of an oxycephalic skull with craniosynostosis, wide nose with anteverted nostrils, hirsutism at base of nose, agenesis of the nasolacrimal ducts and bilateral symmetrical nasolabial cysts on upper lip. Additional features may include hypertelorism. There have been no further descriptions in the literature since 1991.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital septation	Is a	True	Morphologically abnormal structure	Inferred relationship	Some
Congenital hypersegmentation	Is a	True	Morphologically abnormal structure	Inferred relationship	Some
Trilobed structure	Is a	True	Morphologically abnormal structure	Inferred relationship	Some
Bilobed structure	Is a	True	Morphologically abnormal structure	Inferred relationship	Some
Bronchopulmonary collateral artery	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	3
Congenital vesicoureterorenal reflux, bilateral	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Congenital vesicoureterorenal reflux, bilateral	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	4
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (for example patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (such as hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (including anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large open mouth with thin lips, high-arched palate, and micro/retrognathia. Caused by homozygous mutation in the PIGN gene on chromosome 18q21.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare genetic cobblestone lissencephaly disease with characteristics of the presence of a constellation of brain malformations, including cortical gyral and sulcus anomalies, white matter signal abnormalities, cerebellar dysplasia and brainstem hypoplasia, existing alone or in conjunction with minimal muscular and ocular abnormalities, typically manifesting with severe developmental delay, increased head circumference, hydrocephalus and seizures. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the LAMB1 gene on chromosome 7q31.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Hypersensitivity keratopathy of bilateral eyes caused by staphylococcus	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Hypersensitivity keratopathy of right eye caused by staphylococcus	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of right optic disc	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of bilateral optic discs (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of bilateral optic discs (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital anomaly of left optic disc (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare genetic developmental defect during embryogenesis syndrome with characteristics of camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism and microcephaly. There have been no further descriptions in the literature since 1992.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
A rare PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) related overgrowth syndrome disease with characteristics of segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones and progresses in a distal to proximal patten. Congenital overgrowth is typically associated.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of varying degrees of intellectual disability, global developmental delay (notably with severe speech and language impairment), muscular hypotonia, and facial dysmorphism (such as broad forehead, bitemporal narrowing, upslanting palpebral fissures, low-set ears, flat nasal bridge, bulbous nose and variably macroglossia). Highly variable additional features include cardiac defects (including persistent foramen ovale, ventricular septal defects, tetralogy of Fallot), coordination problems, seizures, abnormal growth parameters (including microcephaly, low birth and postnatal weight) and brain morphology anomalies (such as ventriculomegaly and myelination defects).	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Stimmler syndrome is characterized by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	4
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	3
Cerebral-retinal arteriovenous aneurysm (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	3
Syndrome with characteristics of the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular hyperpigmented dermopathy and a white forelock. It has been observed in a woman and her two daughters, whereas her son is unaffected. X-linked or autosomal dominant inheritance is proposed.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Duplex kidney with reflux in one ureter (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Duplex kidney with reflux in both ureters	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Myelomeningocele co-occurrent with hydrocephalus (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	5
A rare genetic systemic disease with the presence of arterial aneurysms, tortuosity and dissection throughout the arterial tree, associated with early-onset osteoarthritis (predominantly affecting the spine, hands and/or wrists, and knees) and mild craniofacial dysmorphism (including long face, high forehead, flat supraorbital ridges, hypertelorism, malar hypoplasia and a raphe, broad or bifid uvula), as well as mild skeletal and cutaneous anomalies. Joint abnormalities, such as osteochondritis dissecans and intervertebral disc degeneration, are frequently associated. Additional cardiovascular anomalies may include mitral valve defects, congenital heart malformations, ventricular hypertrophy and atrial fibrillation.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Lipomyelomeningocele	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	5
A rare genetic congenital muscular alpha-dystroglycanopathy with brain and eye anomalies. The disorder has characteristics of a severe muscle-eye-brain disease-like phenotype associated with intellectual disability, muscular dystrophy, macrocephaly and extended bilateral multicystic white matter disease. There is evidence the disease is caused by homozygous mutation in the DAG1 gene on chromosome 3p21.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	5
A rare genetic congenital muscular alpha-dystroglycanopathy with brain and eye anomalies. The disorder has characteristics of a severe muscle-eye-brain disease-like phenotype associated with intellectual disability, muscular dystrophy, macrocephaly and extended bilateral multicystic white matter disease. There is evidence the disease is caused by homozygous mutation in the DAG1 gene on chromosome 3p21.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	4
A rare malformative syndrome with dentinogenesis imperfecta, characterized by dentin dysplasia with opalescent discoloration and severe attrition of primary and permanent teeth, and delayed eruption, bulbous crowns, long and tapered roots, and progressive root canal obliteration of the permanent dentition, associated with proportionate short stature, sensorineural hearing loss, mild intellectual disability, and dysmorphic facial features. The latter include a prominent nose with high nasal bridge and short philtrum. Osteoporosis, mild platyspondyly, and cone-shaped epiphyses have also been reported.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	4
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of facial dysmorphism (mild eyelid ptosis, xanthelasma, anteverted nostrils, bifid nasal tip, short palate), severe muscle wasting and cachexia, retinitis pigmentosa, numerous lentigines and cafe-au-lait spots, as well as mild soft tissue syndactyly. Additional features include nasal speech, chest asymmetry, pectus excavatum, genu varum, pes planus, and thyroid papillary carcinoma and diffuse enlargement. There has been no further description in the literature since 1984.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Fetal spina bifida (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
An extremely rare genetic multisystemic disorder with characteristics of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia, which may be accompanied by neutrophilic dermatosis. The disease can be associated with fever, joint pain, delayed bone age, growth failure, short adult stature, and development of flexion contractures. Other reported manifestations include failure to thrive, hepatomegaly, neutropenia, and transient cholestatic jaundice. The clinical course is chronic. Caused by a mutation in LPIN2 (18p11.31), which encodes phosphatidate phosphatase LPIN2 (Lipin-2), important in lipid metabolism. Follows an autosomal recessive pattern of inheritance.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare genetic chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 21. The disease has characteristics of pre and post-natal growth delay, short stature, intellectual disability, developmental delay with severe language impairment, thrombocytopenia and craniofacial dysmorphism which may include microcephaly, downslanted palpebral fissures, low-set ears, broad nose, thin upper vermillion and downturned corners of the mouth. Brain MRI abnormalities (such as agenesis of the corpus callosum) behavioural problems and seizures may be associated.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Meningomyelocele of lumbosacral spine (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	6
Meningomyelocele of lumbosacral spine (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
A rare genetic overgrowth syndrome characterised by global developmental delay, macrosomia with subsequent somatic overgrowth, bilateral cystic lung lesions, congenital nephromegaly and bilateral Wilms tumour. Craniofacial dysmorphism includes macrocephaly, frontal bossing, large anterior fontanelle, mild hypertelorism, ear pit, flat nasal bridge, anteverted nares and mild micrognathia. Additional features may include brain and skeletal anomalies, enlarged protuberant abdomen, fat pads on dorsum of feet and toes, and rugated soles with skin folds, as well as umbilical/inguinal hernia and autistic behaviour.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Hypersensitivity keratopathy of left eye caused by staphylococcus	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Release of constriction ring	Direct morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities. There is evidence the disease is caused by heterozygous mutation in the COL11A2 gene on chromosome 6p21.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
A rare genetic central nervous system malformation syndrome with characteristics of early-onset progressive severe cerebellar ataxia associated with progressive moderate to severe intellectual disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia. There is evidence the disease is caused by homozygous mutation in the SNX14 gene on chromosome 6q14.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Dry skin dermatitis	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	4
Myelomeningocele without hydrocephalus (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	4
Reunion Island Larsen-like syndrome	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Myelomeningocele that occurs in the region L1 to L3.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	5
Myelomeningocele that occurs in the region L4 to L5.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	5
Osteochondrodysplasia with osteopetrosis	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
A rare genetic syndromic intellectual disability characterised by developmental delay, hypotonia, speech delay, mild to moderate intellectual disability, abnormal behaviour (autistic, aggressive, hyperactive) and dysmorphic facial features, including synophrys or thick eyebrows, deep set eyes, bulbous nasal tip and full cheeks. Congenital heart and brain anomalies, visual and hearing impairment are also common.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Hyperkeratosis of mucous membrane of mouth due to and following traumatic injury (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	4
Pseudovaginal perineoscrotal hypospadias	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Hypersensitivity keratopathy of bilateral eyes caused by staphylococcus	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Keratoderma blennorrhagicum (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	4
Division of constricting band on limb	Direct morphology	False	Morphologically abnormal structure	Inferred relationship	Some	3
A rare syndromic intellectual disability with characteristics of global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioural issues, stereotypic behaviour, febrile seizures and epilepsy, abnormal gait, vision defects and characteristic facial features. Intrauterine growth restriction and feeding difficulties are frequently present.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Amelogenesis imperfecta, pigmented hypomaturation type	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Enamel-renal syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
An extremely rare lethal multiple congenital anomalies/dysmorphic syndrome with characteristics of renal agenesis with Potter sequence, cleft lip/palate, oral synechiae, cardiac defects, and skeletal abnormalities including postaxial polydactyly. Intestinal nonfixation and intrauterine growth restriction are also associated. There have been no further descriptions in the literature since 1988.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Creation of conduit of right ventricle and pulmonary artery in repair of pulmonary artery atresia	Direct morphology	False	Morphologically abnormal structure	Inferred relationship	Some	7
A rare genetic developmental defect during embryogenesis syndrome with characteristics of camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism and microcephaly. There have been no further descriptions in the literature since 1992.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
A rare genetic neurological disease with the association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose and long philtrum.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
An extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (for example anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
A rare dysostosis syndrome with characteristics of vertical median craniofacial clefting of fronto-naso-maxillary structures associated with auriculo-mandibular malformations. The syndrome manifests with highly variable craniofacial features which include hypertelorism, eyelid coloboma, orbital dystopia, epibulbar dermoid, nasal anomalies (for example wide nasal bridge, bifid nose, widely separated, slit-like nares, nasal bone dysplasia), auricular and middle ear dysplasia (microtia, aural stenosis, pre-auricular skin tags/pits), cleft lip/palate, mandibular/maxillary hypoplasia and facial asymmetry. Intracranial abnormalities and extra-craniofacial features are frequently associated.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
A rare genetic congenital limb malformation syndrome with characteristics of complete cutaneous syndactyly between toes 1-2, ulnar polydactyly (ranging from nubbins to an almost complete additional finger) and earlobe malformations. Additionally, abnormalities along the medial border of the foot are observed on X-ray imaging. There have been no further descriptions in the literature since 1976.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
A rare developmental defect during embryogenesis syndrome with characteristics of glabellar capillary malformation, congenital communicating hydrocephalus and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of severe white matter hypoplasia, corpus callosum agenesis or extreme hypoplasia, severe intellectual disability, failure to thrive and minor midline facial dysmorphism (including hypertelorism, broad nasal root, micrognathia). There have been no further descriptions in the literature since 1993.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
A rare, hereditary connective tissue disease characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, often leading to irreversible blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Origin of innominate artery from left side of aortic arch	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Ehlers-Danlos' syndrom, ikke-hydroxylysinfattig okulær type	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Leprechaunism syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Leprechaunism syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Derangement of left knee (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Derangement of right knee (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Derangement of meniscus of right knee joint (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Derangement of meniscus of left knee joint (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Derangement of meniscus of bilateral knee joints (disorder)	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)