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49755003: Morphologically abnormal structure (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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
3371000077116 structure anormale sur le plan morphologique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5223 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Morphologically abnormal structure Is a Morphologically altered structure true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
46,XY disorder of sex development due to maternal ingestion of progestogen (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
46 XY disorder of sex development due to maternal ingestion of estrogen (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
46,XX disorder of sex development due to maternal Krukenberg neoplasm (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
46,XX disorder of sex development due to maternal adrenal neoplasm (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
46,XX disorder of sex development due to maternal androluteoma (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
46,XX disorder of sex development due to maternal arrhenoblastoma (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Cerebrovascular abnormality due to Takayasu disease (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Blue sclera of bilateral eyes Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Blue sclera of bilateral eyes Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital instability of spine Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
A rare X-linked genomic disorder associated with interstitial chromosomal duplications at Xq28 encompassing the MECP2 gene. It is characterised in males by infantile onset hypotonia, severe global developmental delay, intellectual disability, progressive spasticity, seizures, gastrointestinal symptoms and recurrent respiratory infections. In females, the phenotype is more variable. Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Common atrioventricular junction with spontaneous fibrous closure of atrioventricular septal defect Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Atrioventricular septal defect, atrial and ventricular components with common atrioventricular valve with unbalanced commitment of valve to left ventricle (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital structural abnormality of left eyelid (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital structural abnormality of right eyelid Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital structural abnormality of bilateral corneas Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital structural abnormality of bilateral corneas Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital anomaly of bilateral retinas (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of bilateral retinas (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital anomaly of left pupil Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of bilateral pupils (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of bilateral pupils (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital anomaly of right pupil Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of right sclera (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of left sclera (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of bilateral sclerae (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of bilateral sclerae (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital anomaly of cauda equina Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital exotropia of bilateral eyes (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital exotropia of bilateral eyes (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Atrioventricular septal defect, atrial and ventricular components with common atrioventricular valve with unbalanced commitment of valve to right ventricle Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies). Associated morphology False Morphologically abnormal structure Inferred relationship Some 4
Otomandibular dysostosis Associated morphology False Morphologically abnormal structure Inferred relationship Some 4
A rare oromandibular-limb hypogenesis syndrome (OLHS) characterized by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge. It may be associated with other abnormalities such as cleft palate (in which case the tongue may be attached to the nasal septum), mandibular hypoplasia, upper-lip hypoplasia, hypodontia and variable limb anomalies (e.g. oligodactyly, syndactyly and polydactyly). Associated morphology False Morphologically abnormal structure Inferred relationship Some 5
A rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested. Associated morphology False Morphologically abnormal structure Inferred relationship Some 4
Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis. Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature. Associated morphology False Morphologically abnormal structure Inferred relationship Some 4
An extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis. Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate. Associated morphology False Morphologically abnormal structure Inferred relationship Some 4
Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant. Associated morphology False Morphologically abnormal structure Inferred relationship Some 4
Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears. Associated morphology False Morphologically abnormal structure Inferred relationship Some 5
Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive. Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
A rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations. Associated morphology False Morphologically abnormal structure Inferred relationship Some 6
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the common manifestations found in oromandibular-limb hypogenesis syndromes (OLHS) group such as hypoplasia of the mandible, variable limb anomalies like syndactyly and ectrodactyly, small mouth, cleft palate and hypodontia, accompanied by other clinical signs such as facial paralysis, facial asymmetry, hypertelorism, hypoglossia/aglossia, absent or conically crowned incisors and, ectromelia. There have been no further descriptions in the literature since 1976. Associated morphology False Morphologically abnormal structure Inferred relationship Some 5
A rare, genetic, premature aging disease characterized by sensorineural deafness, generalized lack of subcutaneous fatty tissue (although with increased truncal deposition) noted from childhood, scleroderma, and facial dysmorphism which includes prominent eyes, a beaked nose, small mouth, crowded teeth and mandibular hypoplasia. Other associated features include growth delay, joint contractures, telangiectasia, hypogonadism (with lack of breast development in females), cryptorchidism, skeletal muscle atrophy, hypertriglyceridemia and diabetes mellitus/insulin resistance. Associated morphology False Morphologically abnormal structure Inferred relationship Some 5
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate, and simple, dysplastic pinnae with preauricular pits/tags. Associated morphology False Morphologically abnormal structure Inferred relationship Some 4
Middle interhemispheric variant of holoprosencephaly (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Middle interhemispheric variant of holoprosencephaly (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Severe nonproliferative retinopathy with venous beading of retina due to diabetes mellitus (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Left hand pattern ventricular topology (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Megalencephaly capillary malformation Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Megalencephaly capillary malformation Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Congenital anomaly of left-sided atrioventricular valve in double inlet ventricle (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of right-sided atrioventricular valve in double inlet ventricle Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Congenital anomaly of right-sided atrioventricular valve in double inlet ventricle Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Right hand pattern ventricular topology (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Abnormal intrapericardial course of great arteries (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Acquired narrowing of constructed cardiac intraventricular tunnel (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Common atrioventricular valve with unbalanced commitment of valve to ventricle Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Intermediate atrioventricular septal defect with atrial and ventricular components and separate atrioventricular valves Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Common atrium with common atrioventricular junction (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Atrioventricular septal defect with balanced ventricles (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Acquired abnormality of aortic arch branch Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of left ventricle (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Atypical left ventricular component of common atrioventricular valve (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Disorder of ascending aorta due to conotruncal malformation Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Acquired abnormality of aorta due to congenital heart anomaly Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital right ventricular anomaly Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Atypical right ventricular component of common atrioventricular valve (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Acquired abnormality of common arterial trunk following repair of truncus arteriosus (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Acquired abnormality of atrioventricular (not morphologically mitral or tricuspid) following repair of atrioventricular septal defect Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
An extremely rare type of severe combined immunodeficiency (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Adams-Oliver syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Fetal valproate syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital malformation caused by valproic acid Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
46,XY disorder of sex development due to environmental chemical exposure (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
syndrome de délétion 14q32 Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Acquired abnormality of right atrium Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Acquired abnormality of left cardiac ventricle (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Acquired abnormality of right atrioventricular valve following repair of double inlet ventricle (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Acquired abnormality of left atrioventricular valve following repair of double inlet ventricle Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Acquired abnormality of common atrioventricular valve following repair of biventricular atrioventricular connection Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
46,XY disorder of sex development Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
46,XX androgen-induced disorder of sex development due to maternal adrenal hyperplasia (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Double orifice of common atrioventricular valve Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
46,XX androgen-induced disorder of sex development of iatrogenic maternal origin Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
46,XX disorder of sex development caused by synthetic oral progestogen (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
46,XX disorder of sex development caused by synthetic oral diethylstilbestrol Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
46,XX disorder of sex development caused by testosterone and/or testosterone derivative Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
46,XX testicular disorder of sex development (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare complex overgrowth syndrome characterised by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. 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 3
Acquired abnormality of right cardiac ventricle (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Arrhythmogenic left ventricular cardiomyopathy Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Acquired abnormality of neoaortic valve following biventricular repair of common arterial trunk (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of left renal artery Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of right renal artery (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Bilateral congenital anomaly of renal arteries Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Bilateral congenital anomaly of renal arteries Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Acquired abnormality of congenital malformed heart valve following repair (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2

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