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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
Congenital malformation of uterus and cervix Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital malformation of uterus and cervix Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital anomaly of aortic valve Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Eccentric opening of tricuspid pulmonary valve (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of membranous labyrinth Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Structural anomaly of the cochlea and vestibular labyrinth Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Pseudocoarctation of aorta Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital uterine anomaly Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Lack of ossification of parietal bone Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Left dominant coronary system Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of rectum Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Accessory tissue on aortic valve cusp Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Lack of ossification of femur Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Char syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital iodine deficiency syndrome of neurological type (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital hypothyroidism with ectopic thyroid Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Deafness-craniofacial syndrome is characterized by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Inherited cutis laxa Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
A very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Multiple malformation syndrome, moderate short stature, facial Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare X-linked syndromic intellectual disability characterised by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioural abnormalities including aggressiveness, agitation, and self-injurious behaviour, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare, genetic, neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy). Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
bassin en tromblon Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Pachydermoperiostosis of nail Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Pachydermoperiostosis of nail Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
X-linked hydrocephalus syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Osteopetrosis with renal tubular acidosis Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Dumbbell ossification of centrum of sacral vertebra Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Isolation of right common carotid artery (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID). Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital supravalvular mitral stenosis Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Familial absence of villi Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
A neural tube defect with characteristics of improper closure of the spinal column during embryonal development. In the case of spina bifida occulta the site of the lesion is not exposed, there is a midline defect of the vertebral bodies without protrusion of the spinal cord or meninges. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Fetal primidone syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital iris ectropion (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Hereditary myopathy limited to females Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Ectodermal dysplasia with hair-tooth-nail-sweating defect Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Posteromedial muscle band Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Lower limb malformation-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by severe, uni- or bilateral lower limb malformations (including tibial hypoplasia, split and rocker bottom-shaped feet, and oligosyndactyly), normal upper limbs and hypospadias. Additional dysmorphic features (e.g. short neck and low-set, large ears), atrial septal defect, ureteropelvic junction stenosis and slight septation of the spleen, have also been reported. There have been no further descriptions in the literature since 1977. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Single coronary artery Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Splenoportal vascular anomaly Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Splenoportal vascular anomaly Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Phocomelia of upper limb Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual disability. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual disability. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Congenital anomaly of pupil Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Angioma serpiginosum Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Varix of umbilical vein (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Congenital anomaly of palatine bone Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Testicular dysgenesis syndrome (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Klippel's disease Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Interruption of aortic arch between left common carotid artery and right common carotid artery (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital disorders of eye and eyelid movements Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Congenital bronchomalacia Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Myopathy with cytoplasmic inclusions (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsia and brachyphalangia). Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsia and brachyphalangia). Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Congenital deafness Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Congenital malformation of ear (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Coarctation of left pulmonary artery (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Malformation defect spectrum Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Abnormal attachment of tricuspid chordae tendinae (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Oral-facial-digital syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Oral-facial-digital syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Oral-facial-digital syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
A rare X-linked syndromic intellectual disability characterized by mild to profound intellectual disability, microcephaly, growth delay, and hypogenitalism. Obesity, early-onset diabetes and epilepsy are more variably present. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Myelinated nerve fibers of optic disc Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
A rare autosomal dominant ectodermal dysplasia syndrome characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features may include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics. Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
A rare, complex, vascular malformation syndrome characterized by capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of face and limbs, and partial or generalized overgrowth involving one or more body segments. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
A rare, complex, vascular malformation syndrome characterized by capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of face and limbs, and partial or generalized overgrowth involving one or more body segments. Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
A rare, complex, vascular malformation syndrome characterized by capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of face and limbs, and partial or generalized overgrowth involving one or more body segments. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare, complex, vascular malformation syndrome characterized by capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of face and limbs, and partial or generalized overgrowth involving one or more body segments. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital hydrocalicosis Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Balanced coronary system Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital cyst of ovary Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrichosis localized on the extensor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated. Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Neuronal choristoma Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
A Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome, loose anagen hair, frequent congenital heart defects, distinctive skin features (darkly pigmented skin, keratosis pilaris, eczema or icthyosis), and short stature that is often associated with a growth hormone deficiency. Psychomotor delay with attention deficit/hyperactivity disorder (ADHD) is frequently observed. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome, loose anagen hair, frequent congenital heart defects, distinctive skin features (darkly pigmented skin, keratosis pilaris, eczema or icthyosis), and short stature that is often associated with a growth hormone deficiency. Psychomotor delay with attention deficit/hyperactivity disorder (ADHD) is frequently observed. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of external female genitalia Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
A rare disorder characterized by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears). It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Wildervanck syndrome Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Dyke-Davidoff-Masson syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with microcephaly, craniofacial dysmorphism, joint laxity and beaked nails. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Incomplete formation of bony cochlea Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
CHARGE syndrome is a multiple congenital anomaly syndrome characterised by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's). Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Incomplete ossification of interparietal bone Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital cystic disease of liver Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Neonatal cutis laxa with marfanoid phenotype Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Structural developmental anomalies of neurenteric canal (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia). Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Ectopic thyroid tissue Associated morphology False Morphologically abnormal structure Inferred relationship Some 1

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