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 a variably severe clinical picture comprising dry, thin skin, onychodysplasia, trichodysplasia, and dental abnormalities (such as hypodontia, microdontia, and persistence of deciduous teeth). There have been no further descriptions in the literature since 1990.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
A very rare syndrome described in three siblings of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A very rare syndrome described in three siblings of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital abnormality of thoracic aorta and pulmonary arteries	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital abnormality of thoracic aorta and pulmonary arteries	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Posterior embryotoxon (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Vascular anomaly of umbilical cord	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Atrioventricular septal defect and common atrioventricular junction	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Port-wine stain in proteus syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital malformation of lymphatic vessel of skin (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Aortic tunnel	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Indeterminate atrial arrangement (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare syndrome with limb malformations as a major feature characterized by congenital scalp defects and postaxial polydactyly type A. There is a wide variability of expression, with some patients showing only one of the typical manifestations. There have been no further descriptions in the literature since 1985.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare, inherited disorder characterized by widespread calcifications of basal ganglia and cortex, developmental delay, small stature, retinopathy and microcephaly. The absence of progressive deterioration of the neurological functions is characteristic of the disease.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Left ventricular outflow tract abnormality	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of skeletal bone	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Craniometaphyseal dysplasia - severe type (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse).	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Bowen-Conradi syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Anomalous muscle bands of right ventricle	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Multiple system malformation syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Multiple brain anomalies	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital vascular malformation (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital abnormality of anterior cardiac vein (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital anomaly of tongue	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Adult onset autosomal recessive muscular dystrophy with normal dystrophin	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Odontogenesis imperfecta	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Lack of ossification of tibia	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital abnormality of arterial valves (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Mittendorf's dot (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital penile torsion	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of bone and joint	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of bone and joint	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Thalidomide embryopathy syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of lip	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Spinal dysgenesis (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare developmental defect during embryogenesis malformation syndrome characterized by proportionate short stature, sensorineural deafness, mutism, facial dysmorphism and recurrent infections as a result of abnormal neutrophil chemotaxis. There have been no further descriptions in the literature since 1978.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A type of spina bifida aperta that is usually caused by a vertebral defect associated with a superficial fatty mass (lipoma or fatty tumour) that merges with the lower level of the spinal cord.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Atelencephaly	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of nail	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Parkes Weber syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Parkes Weber syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Craniodigital syndrome - intellectual deficit is characterized by syndactyly of the fingers and toes, characteristic facies (startled facial expression with a small, pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Rudimentary digit (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital lip pits	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of supraoccipital bone	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Concordant ventriculoarterial connection with parallel great arteries	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Occipital dysplasia (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Intermediate anorectal malformation (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC, a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Abnormal dermatoglyphic pattern	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Klippel-Feil sequence	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	5
Klippel-Feil sequence	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	4
Congenital splenorenal shunt	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
X-linked intellectual disability, Siderius type is characterized by mild to borderline intellectual deficit associated with cleft lip/palate. Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. Transmission is X-linked and the syndrome is caused by mutations in the PHF8 gene, localized to the p11.21 region of the X chromosome.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Pulmonary tuberous sclerosis (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Pulmonary tuberous sclerosis (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Anterior leaflet of mitral valve attached to septum	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Aase syndrome	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Trichorhinophalangeal dysplasia type III (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Trichorhinophalangeal dysplasia type III (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Thoracoceloschisis	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Thoracoceloschisis	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	4
Double inlet to ventricle of indeterminate morphology	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
uterus bicornis, der komplicerer post partum-behandling og -pleje, barn født under tidligere behandling	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Chudley Lowry Hoar syndrome	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
A rare systemic or rheumatologic disease characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
A rare systemic or rheumatologic disease characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital ringed hair	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Neurofibromatosis type 2	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	3
Neurofibromatosis type 2	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Developmental malformation of branchial arch (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Lethal tight skin contracture syndrome (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Sacral spina bifida with hydrocephalus - open	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	4
Craniometaphyseal dysplasia - mild type	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Perodactylia of great toe	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of endocrine ovary (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Major systemic to pulmonary collateral artery	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Major systemic to pulmonary collateral artery	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterised by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterised by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterised by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	4
Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterised by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Walker-Warburg congenital muscular dystrophy	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital anomaly of azygos vein	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Cryptotia (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionally, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the butterfly sign is characteristically observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionally, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the butterfly sign is characteristically observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Discontinuous pulmonary arteries (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare multisystem disorder characterised by neonatal/childhood hypotonia, mild to moderate developmental delay or intellectual disability, epilepsy, dysmorphic facial features, hypermetropia, congenital heart anomalies, congenital renal/urologic anomalies, musculoskeletal problems, and a friendly/amiable disposition.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Langer-Giedion syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Langer-Giedion syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Closed spina bifida with Arnold-Chiari malformation	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital anomaly of iris	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)