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 trigger thumb of right hand	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Sinus of branchial cleft (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital malformation of sternum (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of cardiovascular structure of trunk	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Kabuki make-up syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Trilobular liver	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Trilobular liver	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital gingival granular cell tumor	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Diastematomyeli	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	3
Diastematomyeli	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Parachute malformation of mitral valve	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital abnormality of ascending aorta (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Neonatal osteosclerotic dysplasia (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Transverse deficiency of hand	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Transverse deficiency of hand	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Spina bifida with hydrocephalus - open	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Spinal hamartoma	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Spinal hamartoma	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985.	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	3
BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Robert's pelvis	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Lumpy scalp-syndrom	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital abnormality of cardiac vein (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxisomal defects, however, have been reported. Transmission is thought to be autosomal recessive.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Amelogenesis imperfecta - hypomaturation - snow capped teeth	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Lack of ossification of arch of lumbar vertebra	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Malaligned outlet septum	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Paroophoron	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Paroophoron	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
A rare congenital complex vascular malformation syndrome characterized by capillary malformations manifesting as wine stains and venous varicosities typically prominent along the lateral aspect of the lower extremities, associated with overgrowth of a limb (most commonly a leg, less frequently other regions of the body), involving bone and/or soft tissues. The diagnosis is usually made in presence of at least two of these three features. Lymphatic malformations are also observed, while arteriovenous fistulas are absent. Patients present recurrent painful thrombophlebitis, venous thrombosis, and sudden venous hemorrhage.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare congenital complex vascular malformation syndrome characterized by capillary malformations manifesting as wine stains and venous varicosities typically prominent along the lateral aspect of the lower extremities, associated with overgrowth of a limb (most commonly a leg, less frequently other regions of the body), involving bone and/or soft tissues. The diagnosis is usually made in presence of at least two of these three features. Lymphatic malformations are also observed, while arteriovenous fistulas are absent. Patients present recurrent painful thrombophlebitis, venous thrombosis, and sudden venous hemorrhage.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
A rare X-linked syndromic intellectual disability characterized by global developmental delay and severe intellectual disability, seizures, and recurrent lower respiratory tract infections, resulting in premature death in affected males. Additional reported manifestations include mild dysmorphic facial features (such as epicanthic folds, high nasal bridge, or small mouth), gait disturbances, brisk tendon reflexes, delayed bone age, and tapering fingers. No evident heterozygous manifestation has been reported in females.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
bilateral kryptorkisme	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	3
Congenital anomaly of muscle AND/OR tendon	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Bilateral congenital deformity of lower limbs	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Bilateral congenital deformity of lower limbs	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital anomaly of humerus	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Miller syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Miller syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A very rare acrofacial dysostosis characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A very rare acrofacial dysostosis characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Hypoplastic chondrodystrophy	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Shprintzen-Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Schisis association describes the combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip/palate, omphalocele and congenital diaphragmatic hernia. These anomalies are associated at a higher frequency than would be expected with random combination rates.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Interrupted right inferior vena cava (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Syndrome with the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit, without a demonstrable metabolic aberration. It has been described in three sisters born to consanguineous parents.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of anterior segment of eye (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Misdannelsesassociation	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of thoracic cage	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare orofacial clefting syndrome characterized by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints). Growth and mental development were normal.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare orofacial clefting syndrome characterized by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints). Growth and mental development were normal.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Prelingual non-syndromic genetic deafness (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
A rare multiple malformation syndrome with characteristics of severe intrauterine growth retardation, severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism. Severe central nervous system defects are present. The syndrome is transmitted in an autosomal recessive manner.	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Congenital leukonychia	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Familiær fokal faciodermal dysplasi	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Roberts-SC phocomelia syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Axenfeld-Rieger syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Total colonic aganglionosis	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare ectodermal dysplasia syndrome characterized by neonatal teeth, hypo- or oligodontia of the secondary dentition, flexural acanthosis nigricans, and sparse body and scalp hair (the latter being thin and slow-growing). There have been no further descriptions in the literature since 1995.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Thoracic spina bifida with hydrocephalus - closed	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Solitary pulmonary trunk with aortic atresia	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Hyperplastic tooth follicle	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Pelvis justo minor (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
anomali i cartilago cricoidea	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Descending aorta anterior and same side as azygos vein with absent inferior vena cava (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Uterus bicornuatus vetularum	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Multipel kongenit ledstivhed	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Oculo-palato-digital syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Oculo-palato-digital syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Interrupted aortic arch between left subclavian and left common carotid artery	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
mangelfuld udvikling af cauda equina	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of cervical vertebra	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	4
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	5
Ectodermal dysplasia-ocular malformation syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short, webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin siblings born to consanguineous parents.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Ichthyosis-oral and digital anomalies syndrome is characterized by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two siblings born to first cousin parents. Transmission appears to be autosomal recessive.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Ichthyosis-oral and digital anomalies syndrome is characterized by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two siblings born to first cousin parents. Transmission appears to be autosomal recessive.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Isolation of left subclavian artery (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
X-linked muscular dystrophy not predominantly limb girdle	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital anomaly of epidermal appendages	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Ectopic liver	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Aganglionosis of parasympathetic nerve ganglia	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by short stature and particularly pronounced shortening of the third to fifth metacarpals and metatarsals, congenital anodontia, sparse hair, dyspigmentation of the skin, hypoplastic nipples and underdeveloped external genitals in females, and multiple ocular abnormalities (such as distichiasis, strabismus, nystagmus, lenticular opacities, and severe myopia, among others). Dysmorphic craniofacial features include brachycephaly, downslanting palpebral fissures, broad nasal root, low-set ears, and small maxilla and prominent mandible. There have been no further descriptions in the literature since 1968.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Multiple malformation syndrome with senile-like appearance	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Accessory tissue on truncal valve cusp	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Transverse arrest metacarpal second to fifth rays	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Transverse arrest metacarpal second to fifth rays	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Bilateral arterial duct with patent left arterial duct and closed right arterial duct	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Blomstrand dysplasia (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Neurenterisk cyste og associeret malformation	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Pericardial diverticulum	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Becker muscular dystrophy (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
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	2
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	5
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

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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)