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
This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital malformation of mandibular glenoid fossa	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Ectodermal dysplasia	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital anomaly of duodenum	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Marinesco-Sjögren syndrome (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Abnormal palmar creases	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Abnormal palmar creases	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital malformation of anterior abdominal wall	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Discontinuous rib	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Benign congenital myopathy	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare genetic ectodermal dysplasia syndrome with characteristics of sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet. Caused by homozygous or compound heterozygous mutation in the PVRL4 gene (NECTIN4) on chromosome 1q23.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare genetic ectodermal dysplasia syndrome with characteristics of sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet. Caused by homozygous or compound heterozygous mutation in the PVRL4 gene (NECTIN4) on chromosome 1q23.	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	4
vaskulær anomali af synsnervepapil	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Cebocephaly	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Acromegaloid facial appearance syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Acromegaloid facial appearance syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Major systemic to pulmonary collateral artery supplying both lungs (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Major systemic to pulmonary collateral artery supplying both lungs (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Ash leaf spot, tuberous sclerosis	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital anomaly of inferior vena cava	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Lack of ossification of ilium	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Smith-Magenis syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Spina bifida with hydrocephalus of late onset	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital anomaly of blood vessel of limb	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Spina bifida without hydrocephalus	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Early urethral obstruction sequence	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital anomaly of nasal sinuses	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare, genetic developmental defect during embryogenesis disorder characterized by sensorineural hearing impairment, childhood-onset cataract, underdeveloped secondary sexual characteristics, spinal muscular atrophy, growth retardation, and cardiac and skeletal anomalies. Sudden death, as well as fatal cardiomyopathy and heart failure, have been described in some cases.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Neural tube defect	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Cardio-acral-facial syndrome (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Dens evaginatus	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital anomaly of macula	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Atrioventricular septal defect with ventricular component under inferior bridging leaflet with chords to crest ventricular septum (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Multiple malformation syndrome with early overgrowth	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Amelogenesis imperfecta - hypoplastic autosomal dominant - smooth	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Mandibulofacial dysostosis with microcephaly	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of frontal bone	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Primary ciliary dyskinesia due to transposition of ciliary microtubules	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital posterior urethral valves	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
anterior embryotoxon	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of neural structure of trunk	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Benign scapuloperoneal muscular dystrophy	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital abnormality of systemic vein (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Pulmonary artery connecting to coronary artery via collateral artery (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Anomalies of pancreas	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Cystic testicular dysplasia	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Encephalocele	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Anatomically corrected malposition with concordant ventriculoarterial connections and parallel great arteries (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Nance-Horan syndrome (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Fetal postural deformity	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Bilateral ductus arteriosus (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of lymphatic structure of trunk	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Nagele's pelvis	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Duane's syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Duane's syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital branched rib	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of cerebral artery	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Kongenitte kæbedeformiteter	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	3
A rare developmental defect during embryogenesis characterized by congenital lipomatous overgrowth, complex and progressive combined vascular malformations affecting the trunk, and epidermal nevi.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
The mildest form of otopalatodigital syndrome spectrum disorder, characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation have a broad range of phenotypic expression.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	4
Bloom syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Ectodermal dysplasia with tooth-nail-sweating defect (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Lack of ossification of calcaneus	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital anomaly of tarsal bone	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, neurologic signs and symptoms (such as seizures, spasticity, strabismus), characteristic dysmorphic facial features (including broad forehead, hypertelorism, downslanting palpebral fissures, broad and flat nasal bridge, midline notch of upper lip, lack of upper central incisors, incomplete oral cleft, and prominent mandible), and acne scars. Hearing impairment, pseudo-bulbar palsy, growth retardation, and skeletal anomalies (camptodactyly, clinodactyly, bilateral cubitus valgus, pes cavus/planus) have also been described.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
X-linked intellectual disability, Armfield type is characterized by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Colour changes during tooth formation	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Salmon patch naevus	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	3
Nasal encephalocele	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	5
Natal tooth	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis syndrome characterized by mild to moderate intellectual disability and psychomotor delay, Robin sequence (including severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophrys, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Hyperplastisk kondrodystrofi	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrition and intestinal pseudo-obstruction.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Left bronchial isomerism (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Two chambered right ventricle (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Two chambered right ventricle (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
A very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital anomaly of digestive system	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Derencephalus	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Pure gonadal dysgenesis 46,XY	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Exstrophy of urinary bladder sequence	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Reifensteins syndrom	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Reifensteins syndrom	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Nemaline myopathy, early onset type	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of cardiac chamber (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Monophthalmos	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Sporadic cretinism	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Nasal glial heterotopia	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital anomaly of epiglottis	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital contracted pelvis	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Anomalous origin of right ductus arteriosus from right aortic arch (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Vein of Galen malformation (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Lack of ossification of interparietal bone	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Congenital trigger finger and trigger thumb	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital anomaly of blood vessel of lower limb	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Duhamel's syndrome	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital intrahepatic portal-systemic shunt (disorder)	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Transverse arrest metacarpal first ray	Associated morphology	False	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)