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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
Complete epiphyseal arrest Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Partial epiphyseal arrest Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Arrest of bone development AND/OR growth (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Juvenile osteochondrosis of the foot (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Juvenile osteochondrosis of left second metatarsal Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Trochlear notch incongruity (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Disorder of bone development (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Epiphyseal arrest Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Juvenile osteochondrosis of lower extremity (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Juvenile osteochondrosis of talus Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Juvenile osteochondrosis of second metatarsal Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Juvenile osteochondrosis of lower ulna Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Juvenile osteochondrosis of left tarsus Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Juvenile osteochondrosis of left tarsal navicular Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Juvenile osteochondrosis of bilateral tarsals (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Juvenile osteochondrosis of tibial tubercle (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Juvenile osteochondrosis of head of metacarpals Associated morphology False Morphologically abnormal structure Inferred relationship Some 5
Juvenile osteochondrosis of lower extremity, excluding foot Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Juvenile osteochondrosis of the secondary patellar center Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Juvenile osteochondrosis of right tarsal navicular (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Juvenile osteochondrosis of right tarsus (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Juvenile osteochondrosis of upper extremity Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Juvenile osteochondrosis of os tibiale Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Juvenile osteochondrosis of tibial tuberosity of bilateral knees (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Juvenile osteochondrosis of tarsal navicular Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Juvenile osteochondrosis of fifth metatarsal Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Juvenile osteochondrosis of primary patellar center Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Juvenile osteochondrosis of hand Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Triphalangeal thumbs with onychodystrophy Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome is a rare, syndromic nail anomaly disorder characterized by the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with longitudinal furrows on electronic microscopy. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Idiopathic photo-onycholysis Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Congenital onychauxis Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Deafness-onychodystrophy syndrome is a group of rare, genetic, developmental defect during embryogenesis disorders characterized by the association of sensorineural deafness and onychodystrophy (e.g. absent/hypoplastic finger and toenails), as well as brachydactyly and finger-like thumbs. Additional features present in one of the diseases comprising this group include osteodystrophy, intellectual disability, seizures, developmental delay, and distinctive facies. Associated morphology False Morphologically abnormal structure Inferred relationship Some 4
Venous malformation Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare, genetic, eye disease characterized by foveal hypoplasia, optic nerve misrouting with an increased number of axons decussating at the optic chiasm and innervating the contralateral cortex, and posterior embryotoxon or Axenfeld anomaly (indicating anterior segment dysgenesis), in the absence of albinism. Patients present congenital nystagmus, decreased visual acuity, refractive errors and, occasionally, strabismus. Microphthalmia and retinochoroidal coloboma may also be associated. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare, genetic, eye disease characterized by foveal hypoplasia, optic nerve misrouting with an increased number of axons decussating at the optic chiasm and innervating the contralateral cortex, and posterior embryotoxon or Axenfeld anomaly (indicating anterior segment dysgenesis), in the absence of albinism. Patients present congenital nystagmus, decreased visual acuity, refractive errors and, occasionally, strabismus. Microphthalmia and retinochoroidal coloboma may also be associated. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Gorham's disease Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
A rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypo-pigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypo-pigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare developmental defect with connective tissue involvement disorder characterized by tall stature, inguinal hernia, facial dysmorphism (including a long, triangular face, prominent forehead, telecanthus, downslanting palpebral fissures, bilateral ptosis, everted lower eyelids, large ears, long nose, full, everted vermilions, narrow and high arched palate, dental crowding), and radiologic evidence of advanced bone age. Additional manifestations include hyperextensible joints, long digits, mild muscle weakness, myopia, and foot deformities (i.e. hallux valgus, talipes equinovarus). Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Spongy venous malformation Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare, genetic, syndromic intellectual disability disorder characterized by intellectual disability, significant motor delay, severe speech impairment, early-onset truncal hypotonia with progressive distal hypertonia/spasticity, microcephaly, and behavioral anomalies (autistic features, aggression or auto-aggressive behavior, sleep disturbances). Variable facial dysmorphism includes broad nasal tip with small alae nasi, long and/or flat philtrum, thin upper lip vermillion. Visual impairment (strabismus, hyperopia, myopia) is commonly associated. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare, genetic, ectodermal dysplasia syndrome characterized by skin, hair and nail anomalies (i.e. generalized ichthyosis, congenital alopecia universalis, dystrophic, convex nails), associated with hypohidrosis without hyperthermia, intellectual disability, seizures, and skeletal (e.g. proportionate short stature, platyspondyly) and intestinal (e.g. congenital aganglionic megacolon) anomalies. Facial dysmorphism includes frontal bossing, blepharophimosis, large ears, low nasal bridge and small nose. There have been no further descriptions in the literature since 1992. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare, genetic, ectodermal dysplasia syndrome characterized by skin, hair and nail anomalies (i.e. generalized ichthyosis, congenital alopecia universalis, dystrophic, convex nails), associated with hypohidrosis without hyperthermia, intellectual disability, seizures, and skeletal (e.g. proportionate short stature, platyspondyly) and intestinal (e.g. congenital aganglionic megacolon) anomalies. Facial dysmorphism includes frontal bossing, blepharophimosis, large ears, low nasal bridge and small nose. There have been no further descriptions in the literature since 1992. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
A rare, syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, feeding difficulties, dysmorphic features, autism and behavioral issues. Growth retardation, congenital heart anomalies, gastrointestinal and genitourinary defects have been rarely associated. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare, central nervous system malformation characterized by specific pattern of congenital anomalies affecting the pons, medulla, and cerebellum. Clinical manifestations of multiple cranial nerves deficits, pyramidal and cerebellar signs include neonatal hypotonia, ataxia, sensorineural deafness, reduced vision, language and speech disorders, feeding and swallowing difficulties, facial paralysis and intellectual disability. Various cardiac, gastrointestinal, genitourinary and skeletal defects have been sometimes reported. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare, genetic, primary bone dysplasia disorder characterized by short stature, hyperlordosis, protuberant abdomen, mild bilateral genu varum, bowed and shortened forearms with limited elbow extension, and discrete facial dysmorphism (prominent forehead, hypertelorism, flat nasal bridge). Radiographically, moderate platyspondyly, including posterior wedging with anterior bullet-shaped vertebral bodies, with minimal metaphyseal abnormalities are observed. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Keratolytic winter erythema (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Formation of an epidermal layer which lacks nuclei during normal keratinization. Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Primary seborrhea Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Hereditary erythrokeratolysis Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
hyperkératose Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Keratolysis exfoliativa Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Slightly pigmented smooth or warty papules that are flesh colored and found on the upper surface of hands and feet. Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Retention hyperkeratosis (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Lymphedematous keratoderma Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Acquired disorder of keratinization (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Inherited disorder of keratinization Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Retention hyperkeratosis due to neglect Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Erythrokeratoderma en cocardes Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Ichthyosiform erythroderma Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital reticular ichthyosiform erythroderma (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Erythrokeratoderma Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
kératodermie acquise palmaire et plantaire Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Erythrokeratoderma progressiva of Gottron Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare, genetic, syndromic intellectual disability disorder characterized by congenital, external, nuclear ophthalmoplegia, lingua scrotalis, progressive chorioretinal sclerosis and intellectual disability. Bilateral ptosis, bilateral facial weakness, Parinaud's syndrome, convergence paresis and myopia may be associated. There have been no further descriptions in the literature since 1975. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Keratosis Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Focal acral hyperkeratosis (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Congenital ichthyosiform erythroderma Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare, genetic, polymalformative syndrome characterized by a Noonan-like phenotype associated with increased risk of developing juvenile myelomonocytic leukemia (JMML). The Noonan-like (NS) phenotype includes dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), developmental delay, hypotonia and small head circumference. It can be associated with congenital heart defects or cardiomyopathy, ectodermal anomalies, and short stature. The NS phenotype is subtle or even inapparent in a large proportion of subjects but may occasionally be severe. Leukemia can be the only clinical manifestation of the syndrome. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
An extremely rare, lethal, primary bone dysplasia characterized by thin ribs, thin long bones, high-arched palate and facial features of frontal bossing and low-set, posteriorly rotated ears. Bilateral cryptorchidism may be also observed. There have been no further descriptions in the literature since 1990. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare, genetic, primary immunodeficiency disorder characterized by increased radiosensitivity(R), mild immunodeficiency (ID), dysmorphic features (D), and learning difficulties (LE). Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare congenital anomaly of the inferior vena cava characterized by the postnatal presence of a eustachian valve remnant, which may be asymptomatic and considered a normal variant or prominent and clinically significant. Clinical presentation is variable and includes obstruction of the inferior vena cava, cyanosis, thrombosis, pulmonary embolism, infective endocarditis, and when combined with persistent foramen ovale, it may generate permanent right-to-left shunt. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism, including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia, and cleft palate, associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome is a rare, genetic, developmental defect during embryogenesis disorder characterized by partial (unilateral testis, persistence of Müllerian duct structures) or complete (streak gonads only) gonadal dysgenesis, usually manifesting with primary amenorrhea in individuals with female phenotype but 46,XY karyotype, and sensorimotor dysmyelinating minifascicular polyneuropathy, which presents with numbness, weakness, exercise-induced muscle cramps, sensory disturbances and reduced/absent deep tendon reflexes. Germ cell tumors (seminoma, dysgerminoma, gonadoblastoma) may develop from the gonadal tissue. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the CYP11A1 gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Rhinocheiloplasty repair for cleft lip Direct morphology False Morphologically abnormal structure Inferred relationship Some 2
Closure of coronary sinus atrial septal defect Direct morphology True Morphologically abnormal structure Inferred relationship Some 2
Rehbein procedure Direct morphology True Morphologically abnormal structure Inferred relationship Some 1
Spina bifida aperta of thoracic spine (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Sacroperineal pull-through Direct morphology True Morphologically abnormal structure Inferred relationship Some 1
Cutback of covered anus Direct morphology True Morphologically abnormal structure Inferred relationship Some 2
Correction of congenital deformity Direct morphology False Morphologically abnormal structure Inferred relationship Some 1
Myelomeningocele that occurs in the region L1 to L3. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Intrauterine fetal defect correction Direct morphology True Morphologically abnormal structure Inferred relationship Some 1
Repair of lop ear Direct morphology True Morphologically abnormal structure Inferred relationship Some 1
Myelomeningocele that occurs in the region L4 to L5. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Posterior sagittal anorectoplasty Direct morphology True Morphologically abnormal structure Inferred relationship Some 2
Removal of colorectal septum Direct morphology True Morphologically abnormal structure Inferred relationship Some 2
Patching of coronary sinus atrial septal defect Direct morphology False Morphologically abnormal structure Inferred relationship Some 2
Correction of congenital deformity of heart (procedure) Direct morphology True Morphologically abnormal structure Inferred relationship Some 1
Spina bifida aperta of cervical spine (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
V-Y anoplasty Direct morphology True Morphologically abnormal structure Inferred relationship Some 2
Correction of congenital anorectal malformation Direct morphology True Morphologically abnormal structure Inferred relationship Some 1
Abdominosacroperineal pull-through Direct morphology True Morphologically abnormal structure Inferred relationship Some 1
Reanastomosis of rectum to anal canal for correction of congenital atresia of rectum Direct morphology False Morphologically abnormal structure Inferred relationship Some 4
Myelomeningocele co-occurrent with hydrocephalus (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Grafting of palate for cleft palate repair (procedure) Direct morphology False Morphologically abnormal structure Inferred relationship Some 2
Correction of congenital deformity of great vessels (procedure) Direct morphology False Morphologically abnormal structure Inferred relationship Some 1
Spina bifida aperta of lumbar spine (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 4

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