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
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 characterized 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
Defect in vaginal wall (finding)	Associated morphology	True	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)