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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
Chronic derangement of anterior horn of lateral meniscus of right knee (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Chronic derangement of anterior horn of lateral meniscus of bilateral knees (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Chronic derangement of anterior horn of lateral meniscus of bilateral knees (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Chronic derangement of posterior horn of medial meniscus of bilateral knees (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Chronic derangement of posterior horn of medial meniscus of bilateral knees (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Chronic derangement of posterior horn of medial meniscus (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Chronic derangement of posterior horn of medial meniscus of left knee (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Chronic derangement of posterior horn of medial meniscus of right knee Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Chronic derangement of posterior horn of lateral meniscus of bilateral knees (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Chronic derangement of posterior horn of lateral meniscus of bilateral knees (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Chronic derangement of posterior horn of lateral meniscus (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Chronic derangement of posterior horn of lateral meniscus of left knee Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Chronic derangement of posterior horn of lateral meniscus of right knee Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Derangement of joint of foot Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Derangement of joint of left foot Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Derangement of joint of right foot (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Derangement of joint of bilateral feet (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Derangement of joint of bilateral feet (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Deposition Is a True Morphologically abnormal structure Inferred relationship Some
A rare centronuclear myopathy characterised by a variable severity of muscle weakness which is typically asymmetric with a limb-girdle pattern. Severity can range from skeletal asymmetry to loss of ambulation. Other manifestations may include respiratory muscle weakness, urinary incontinence, bulbar signs (facial weakness, limitation of extra-ocular movements, ophthalmoparesis, ptosis and dysarthria), or skeletal involvement (kyphoscoliosis, scoliosis, joint hyperlaxity, joint contractures of the lower extremities, foot deformities and hand and/or facial contractures). Many female carriers remain asymptomatic. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Posterior fossa brain malformation, hemangioma, arterial anomaly, cardiac defect, aortic coarctation, eye abnormality, sternal anomalies syndrome (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Posterior fossa brain malformation, hemangioma, arterial anomaly, cardiac defect, aortic coarctation, eye abnormality, sternal anomalies syndrome (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare multiple congenital anomalies/dysmorphic syndrome characterised by mild to severe intellectual disability and/or developmental delay, speech delay, behavioural problems (attention deficit-hyperactivity disorder, autism and anxiety disorders, outgoing hyper-social personality), periods of fever and cyclic vomiting. Most patients manifest additional clinical features, including gastrointestinal symptoms (poor feeding and constipation), facial dysmorphism (broad forehead, low-set posteriorly rotated ears, upturned nose and broad mouth with thin upper lip), small hands and feet often with brachydactyly, short stature, high pain threshold and/or hypersensitivity to sound, hypotonia and broad-based gait. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterised by severe brain malformations associated with cerebral parenchymal underdevelopment, arthrogryposis and club feet due to mutations in KIAA1109 gene. Majority of the cases are early lethal. Milder cases may present with severe global developmental delay, intellectual disability, microcephaly, hydrocephaly, heart defects, renal problems, severe muscle hypotonia causing incapacity to stand without a support, epilepsy, syndactyly and variable dysmorphic facial features (including hypotelorism, hypertelorism, small eyes, low-set and posteriorly rotated ears, short nose, flattened nasal bridge, anteverted nares, retrognathia). Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare multiple congenital anomalies/dysmorphic syndrome characterised by severe brain malformations associated with cerebral parenchymal underdevelopment, arthrogryposis and club feet due to mutations in KIAA1109 gene. Majority of the cases are early lethal. Milder cases may present with severe global developmental delay, intellectual disability, microcephaly, hydrocephaly, heart defects, renal problems, severe muscle hypotonia causing incapacity to stand without a support, epilepsy, syndactyly and variable dysmorphic facial features (including hypotelorism, hypertelorism, small eyes, low-set and posteriorly rotated ears, short nose, flattened nasal bridge, anteverted nares, retrognathia). Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
A rare multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, intellectual disability (ranging from mild to severe), speech delay or speech disorder and cupped and/or low-set ears. Patients may also have brain abnormalities, hypotonia, drooling and vision problems. Seizures and sleep disturbance were reported for some patients. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual disability, global developmental delay with no speech (some patients may have limited speech), inability or difficulty to walk, microcephaly, and early-onset cataract. Additional clinical features may include hypotonia, spasticity, endocrine/metabolic diseases and immunodeficiency with lymphopenia. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild or moderate intellectual disability, developmental delay, short stature and facial dysmorphism (long ears, prominent nasal tip, low columella, thin upper lip, broad mouth and prominent chin) due to KDM3B mutations. Neonatal feeding difficulties, childhood hypotonia, and behavior problems were also reported in some patients. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Loeys-Dietz syndrome (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Vaginal abnormality in pregnancy, childbirth and the puerperium Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Pelvic soft tissue abnormality in pregnancy, childbirth and the puerperium Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
A rare multiple congenital anomalies/dysmorphic syndrome characterised by eye abnormalities (including unilateral/bilateral microphthalmia, coloboma, unilateral ptosis and lens opacity) in addition to failure to thrive, renal anomalies (mainly horseshoe kidney, however ureteral-pelvic junction dysfunction and vesicoureteral reflux were also reported), imperforate anus and global developmental delay. Majority of the patients also present with hearing impairment, cardiac anomalies and dysmorphic features (triangular face, hypoplastic alae nasi, beaked nose, and small pointed chin). Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Morbidly adherent placenta (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria. Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Congenital aganglionosis of small intestine Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital midline raphe of philtrum Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Total colonic aganglionosis Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Aganglionosis of colon Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Lack of ossification of vomer Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, moderate to severe intellectual disability, language delay and asymptomatic persistence of fetal hemoglobin. Joint laxity and microcephaly are commonly observed. Majority of the patients present with variable dysmorphic features (including strabismus, downslanting palpebral fissures, anteverted nose with small nares and full tip, external ear anomalies, thin upper lip and everted lower lip). Behavior problems including anxiety, recurrent hand flapping/biting and attention deficit can also be observed. 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 4
Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital anomaly of left ovary (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of right ovary (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
2q33.1 microdeletion syndrome (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
A rare partial autosomal monosomy characterised by global developmental delay, intellectual disability, multiple cartilaginous exostoses, and craniofacial anomalies (such as brachycephaly, biparietal foramina, large fontanels, craniosynostosis, ptosis, epicanthic folds, prominent nasal bridge with broad, depressed nasal tip, hypoplastic nares, short philtrum, downturned upper lip, and micrognathia). Additional reported features include behavioural abnormalities, myopia, strabismus, and sensorineural hearing loss, among others. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare chromosomal anomaly characterised by an extremely variable clinical phenotype and may include heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
An autosomal anomaly with characteristics of variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Vestibular neuronitis of inner ear (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Developmental abnormality of molar tooth (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Developmental abnormality of premolar tooth Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Developmental abnormality of incisor tooth Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Developmental abnormality of canine tooth Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Developmental abnormality of deciduous tooth (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Fetal sex chromosome abnormality Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Fetal chromosomal abnormality (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Fetal chromosomal abnormality affecting obstetrical care (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Derangement of joint of hip (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Derangement of joint of hand (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Derangement of medial meniscus of left knee (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Derangement of medial meniscus of right knee (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB gain of function mutation (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB gain of function mutation (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 3

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