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 ectodermal dysplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	6
Lack of ossification of arch of sacral vertebra	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
A rare multiple congenital anomalies syndrome characterized by tall stature due to postnatal overgrowth, mild to moderate intellectual disability, joint hypermobility and subtle distinctive facial features, which often become apparent during adolescence (such as round face, low-set, thick horizontal eyebrows, narrow palpebral fissures and prominent upper-central incisors). Overweight, hypotonia, behavioral and psychiatric problems are common. Other clinical features may involve seizures, cryptorchidism and cardiovascular diseases (including congenital heart disease and aortic root dilatation).	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Morning glory disc	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Tubule of paroophoron	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Tubule of paroophoron	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital blindness	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of pulmonary veins	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Franceschetti-Kleins syndrom	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of diaphragm	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Overgrowth of whole upper limb	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Overgrowth of whole upper limb	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital saddle nose (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of radius	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Reunion-Indiana Amish type muscular dystrophy	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Dwarf pelvis	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of palate	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Urachal diverticulum	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Schizencephaly	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Schizencephaly	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital corneal opacity not interfering with vision	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Malformation sequence	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
kongenit uterusabnormitet, barn født	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Platyspondylia	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Delta phalanx of finger	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare syndromic intellectual disability characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Neurologisk form af kretinisme	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital trigger thumb of bilateral hands	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital trigger thumb of bilateral hands	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital malformation of larynx and trachea (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital malformation of larynx and trachea (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of tricuspid valve (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare genetic disease characterized by bilateral Duane retraction syndrome type 3 (consisting of severe limitation of abduction, restriction of adduction, retraction of the globe, and narrowing of the palpebral fissure) and congenital myopathy manifesting as mild non-progressive hypotonia without muscular weakness, as well as delayed motor milestones, severe early-onset scoliosis, and short stature. Intelligence is normal.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	4
A rare genetic disease characterized by bilateral Duane retraction syndrome type 3 (consisting of severe limitation of abduction, restriction of adduction, retraction of the globe, and narrowing of the palpebral fissure) and congenital myopathy manifesting as mild non-progressive hypotonia without muscular weakness, as well as delayed motor milestones, severe early-onset scoliosis, and short stature. Intelligence is normal.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
A rare genetic disease characterized by bilateral Duane retraction syndrome type 3 (consisting of severe limitation of abduction, restriction of adduction, retraction of the globe, and narrowing of the palpebral fissure) and congenital myopathy manifesting as mild non-progressive hypotonia without muscular weakness, as well as delayed motor milestones, severe early-onset scoliosis, and short stature. Intelligence is normal.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Persistent Gartner's duct (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	3
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	4
Congenital retraction of nipple	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Bilateral congenital deformity fingers	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Bilateral congenital deformity fingers	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Cryptophthalmos (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Megacystis, microcolon, hypoperistalsis syndrome	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Megacystis, microcolon, hypoperistalsis syndrome	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	3
Lack of ossification of frontal bone	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
kongenitte maculaforandringer	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Generalised essential telangiectasia	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital anomaly of nasal turbinate	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare, multiple congenital anomalies syndrome characterized by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalized contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (i.e. sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Cutis laxa, autosomal dominant	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Paravaginal cyst arising in mesonephric duct	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Port-wine stain in Rubinstein-Taybi syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Functionally univentricular heart (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Functionally univentricular heart (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Functionally congenital single lung (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Right hypoplastic heart syndrome	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Right hypoplastic heart syndrome	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Abnormal course of aortic arch and descending aorta (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Abnormal course of aortic arch and descending aorta (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Right bronchial isomerism (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Isolation of right subclavian artery (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital anomaly of lower trunk	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Benign skapuloperoneal muskeldystrofi med kardiomyopati	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital lower lip pits (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of superior vena cava	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed.	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Myhre syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Neurenterisk cyste	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Makrocolon	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Annular pancreas	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Fetal Alcohol Spectrum Disorder	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
A rare, genetic, neurological disorder characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, developmental delay, and intellectual disability, described in persons of Athabascan American Indian heritage. Swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, internal carotid artery, and cardiac outflow tract anomalies may be additionally observed. No dysmorphic facial features are associated.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Amelogenesis imperfecta, hypomaturation type	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Kundrat's syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Lack of ossification of arch of thoracic vertebra	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
testikulær dysgenese	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Overgrowth of partial upper limb	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Overgrowth of partial upper limb	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Amelogenesis imperfecta, hypoplastic type (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of ulna	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Colpocephaly	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
A rare, genetic, syndromic intellectual disability characterized by severe intellectual disability, distinctive craniofacial features and variable multiple congenital anomalies including ocular, brain, urogenital and skeletal abnormalities.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and carp-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Ectopic gray matter	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital honeycomb lung	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Laurence-Moons syndrom	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Localised congenital skull defect	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Right sided atrium connecting to ventricle of indeterminate morphology	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital abnormal fusion of arch of lumbar vertebra	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Imperforate large intestine	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Multiple congenital cardiac defects	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Double uterus affecting pregnancy	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of mouth (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)