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
Transverse arrest metacarpal first ray	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Transverse arrest metacarpal first ray	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Atrioventricular septal defect with atrioventricular valve regurgitation through right septal commissure (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	3
Cardio-facio-cutaneous syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Failure of differentiation of bones of forearm	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Collaterals to pulmonary arteries	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Bilateral isomeric atria (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of hyoid bone	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Immotile cilia syndrome due to defective radial spokes	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Otocephalic syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Single congenital anomaly	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Parallel course of aorta and pulmonary artery (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anterior staphyloma	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Anomalous coronary artery without acute angulation of less than 45 degrees relative to aorta	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of urinary bladder (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital abnormality of right atrioventricular valve chordae tendinae in double inlet ventricle (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Orofacial-digital syndrome III	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Orofacial-digital syndrome III	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Orofacial-digital syndrome III	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	4
A rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails.	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	4
Myotubular myopathy	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Complete aphalangia of upper limb	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Scrotal hypospadias	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of hand (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Aortic root congenital abnormality	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Trichorhinophalangeal syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Trichorhinophalangeal syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Retinitis pigmentosa-deafness syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital branched rib cartilage	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Funnel-shaped pelvis	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Worster-Drought syndrome (WDS) is a form of cerebral palsy characterized by congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Lack of ossification of carpal bone	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Hajdu-Cheney syndrome	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Limb body wall complex (LBWC) is characterized by severe multiple congenital anomalies in the fetus with exencephaly/encephalocele, thoraco- and/or abdominoschisis (anterior body wall defects) and limb defects, with or without facial clefts.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Caliber persistent labial artery (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Undergrowth of whole hand	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Undergrowth of whole hand	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital abnormality of Eustachian tube	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Male pseudohermaphroditism	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Posterior fossa brain malformation, hemangioma, arterial anomaly, cardiac defect and aortic coarctation, and eye abnormality syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Posterior fossa brain malformation, hemangioma, arterial anomaly, cardiac defect and aortic coarctation, and eye abnormality syndrome (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital anomaly of heart valve	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of spinal meninges	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Atrioventricular septal defect with atrioventricular valve regurgitation through right anterosuperior superior bridging leaflet commissure (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	3
Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of esophagus	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Angelman syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
A very rare subtype of Waardenburg syndrome (WS) with characteristics of limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin. Caused by heterozygous or homozygous mutations in the PAX3 (2q36.1) gene.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Anomalous muscle bands of left ventricle	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of vertebral region of back	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Axenfeld anomaly	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	3
Axenfeld anomaly	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Clastothrix	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Fetal alcohol syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Short segment Hirschsprung's disease	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Systemic to pulmonary collateral artery from descending thoracic aorta	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Systemic to pulmonary collateral artery from descending thoracic aorta	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Fetal genitourinary abnormality (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Fetal genitourinary abnormality (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Aortic arch centrally descending	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
A rare, autosomal dominant, eye disorder representing a constellation of inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Pure gonadal dysgenesis 46,XX	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Atrioventricular septal defect - ventricular component under superior bridging leaflet	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Lack of ossification of ischium	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Craniofaciofrontodigital syndrome is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies).	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
manglende åbninger i kraniet	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Spondyloschisis	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital anomaly of tooth (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
An early-onset distal osteolysis characterized by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
An early-onset distal osteolysis characterized by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Ductus venosus abnormality	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Neutropenia-monocytopenia-deafness syndrome is characterized by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Bitemporale ar med abnorme øjenvipper	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of appendix	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital ranula (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Major aortopulmonary collateral artery	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Major aortopulmonary collateral artery	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Isolation of common carotid artery	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Ectopic gastric mucosa	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Ebstein-like malformation of mitral valve (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Ebstein-like malformation of mitral valve (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Encephalocystocele	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Acyanotic congenital heart disease	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital abnormality of right atrioventricular valve in double inlet ventricle (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of tympanic anulus	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Orofacial-digital syndrome IV	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Orofacial-digital syndrome IV	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Orofacial-digital syndrome IV	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	4
Congenital malformation of urinary bladder and urethra (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital malformation of urinary bladder and urethra (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2

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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)