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 malformation of tongue, mouth and pharynx (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital malformation of tongue, mouth and pharynx (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Congenital malformation of sphenoid wing (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of digestive organ	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by lissencephaly, agenesis of the corpus callosum and other cerebral structural anomalies, early-onset intractable seizures, and ambiguous genitalia. Consequences of hypothalamic dysfunction, such as disturbed temperature regulation, may be observed. Additional anomalies including dysmorphic craniofacial features have been reported. The disease is fatal in infancy or childhood in males, while female carriers may be unaffected or show a milder phenotype with developmental delay, behavioral abnormalities, and seizures.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Developmental displacement of brachial plexus	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
X-linked intellectual disability, Stocco Dos Santos type is characterized by severe intellectual deficit with hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections. Aggressive behavior and frequent epileptic seizures may also be present. The syndrome has been described in four boys from the same family. Transmission is X-linked and is caused by mutations in the KIAA1202 gene, localized to the Xp11.2 region.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Enamel pearls	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Enamel pearls	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Osteochondrodysplasia syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of prostate	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Focal nodular hypoplasia of liver (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
uterus bicornis, barn født, med post partum-komplikation	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital calyceal diverticulum	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, short stature, skeletal abnormalities (such as brachydactyly and vertebral anomalies), obesity, cardiac, respiratory, and genitourinary anomalies, and dysmorphic facial features (including coarse facies, thick eyebrows, synophrys, hypertelorism, short, upturned nose, and long philtrum). Additional reported manifestations are microcephaly, hearing impairment, cataract, and gastroesophageal reflux.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Amelogenesis imperfecta co-occurrent with cone rod dystrophy	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Abnormality of canalization and retrogressive differentiation (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Intracardiac location of anomalous pulmonary venous connections to bilateral isomeric atriums (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Pseudohermaphroditism	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Oto-onycho-peroneal syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Oto-onycho-peroneal syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Oto-onycho-peroneal syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Oto-onycho-peroneal syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	4
Spina bifida with hydrocephalus - closed	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Genitourinary congenital anomalies	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Aganglionosis of colon	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of right ear (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when café-au-lait spots are present in patients diagnosed with NS).	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when café-au-lait spots are present in patients diagnosed with NS).	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital vascular anomaly of eye	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare genetic disease characterized by the association of unilateral complete or partial lung agenesis, complex congenital cardiac anomalies such as atrial septal defect, total anomalous pulmonary venous return, or patent ductus arteriosus, and ipsilateral or bilateral thumb abnormalities. Presence of facial dysmorphism and other malformative features has also been reported.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
KBG syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Perodactylia of multiple toes	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of basisphenoid bone	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital abnormality of skull and face bones	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Microcephaly-capillary malformation syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Systemic to pulmonary collateral artery from right renal artery (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Systemic to pulmonary collateral artery from right renal artery (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of adrenal gland	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of testis	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Pseudovaginal perineoscrotal hypospadias	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Lowe syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, feeding difficulty and failure to thrive, cardiac anomalies (septal defects and/or valve dysplasia), joint laxity, short extremities, brachydactyly, carpal and tarsal fusion, cervical vertebral fusion, inner ear malformation with bilateral conductive hearing loss, and dysmorphic facial features (such as hypertelorism, upslanting palpebral fissures, posteriorly rotated ears, anteverted nares, and long philtrum). Additional variable manifestations include gastroesophageal reflux and genitourinary anomalies, among others.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Female epispadias (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Female epispadias (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	3
Female epispadias (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterised by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A spectrum of diseases with manifestation of overgrowth that results from somatic activating mutations in the phosphatidylinositol-3-kinase/AKT/mTOR pathway.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Persistent lanugo	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
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	False	Morphologically abnormal structure	Inferred relationship	Some	3
Autosomal dominant familial woolly hair	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Intrauterine amputation of lower limb	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital pulmonary valve abnormality	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital malformation of posterior pituitary	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Male epispadias (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Male epispadias (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	3
Male epispadias (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of zygomatic bone	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
An extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Dubowitz's syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Mirror image bronchial anatomy (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Syphilitic saddle nose	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Oro-facial digital syndrome type 12	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Oro-facial digital syndrome type 12	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	4
Oro-facial digital syndrome type 12	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Oro-facial digital syndrome type 12	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	5
Oro-facial digital syndrome type 12	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Microhepatia	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Ichthyosis cheek eyebrow syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Ear pit syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Reticulate pigmented anomaly of flexures	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Hooded clitoris	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Reticulate vascular nevus	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital abnormality of posterior cardiac vein of left ventricle (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
væksthæmmet embryon	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Lumbar spina bifida without hydrocephalus - closed	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Fetal warfarin syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Capillary malformation-arteriovenous malformation syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of vena cava	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
X-linked intellectual disability, Stoll type is characterized by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Stickler syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	4
Fordyce spots of buccal mucosa (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Atlanto-occipital malformation	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Atlanto-occipital malformation	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Nicolaides-Baraitser syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare developmental defect during embryogenesis characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	3
Cutaneous vascular malformation (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Floating-Harbour syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Laterality sequence	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of myocardium	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of peripheral blood vessel (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Midline sinus of the upper lip	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Fetal methyl mercury syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare genetic disease characterized by lethal non-spherocytic, non-immune hemolytic anemia, in association with abnormalities of the external genitalia (such as micropenis and hypospadias). Reported dysmorphic features include flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. There have been no further descriptions in the literature since 1995.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Duane's syndrome of bilateral eyes (disorder)	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)