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
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	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	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
Trifalangeale tommelfingre med onykodystrofi	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
A rare syndromic nail anomaly disorder with characteristics of 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
Idiopatisk foto-onykolyse	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	1
Congenital onychauxis	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
A group of rare genetic developmental defect during embryogenesis disorders with the association of sensorineural deafness and onychodystrophy (for example absent/hypoplastic finger and toenails) as well as brachydactyly and finger-like thumbs.	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 with characteristics of 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. There is the disease is caused by homozygous or compound heterozygous mutation in the SLC38A8 gene on chromosome 16q23.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
A rare genetic eye disease with characteristics of 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. There is the disease is caused by homozygous or compound heterozygous mutation in the SLC38A8 gene on chromosome 16q23.	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. The disease has characteristics of skin manifestations including collodion membrane, ichthyosis and patchy hypopigmented lesions associated with severe neurological involvement (for example 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). Toe syndactyly, polydactyly and kyphosis as well as ophthalmic, cardiac and urogenital anomalies may also be associated. There is evidence the disease is caused by hemizygous mutation in the EBP gene on chromosome Xp11.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare genetic syndromic sterol biosynthesis disorder affecting males. The disease has characteristics of skin manifestations including collodion membrane, ichthyosis and patchy hypopigmented lesions associated with severe neurological involvement (for example 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). Toe syndactyly, polydactyly and kyphosis as well as ophthalmic, cardiac and urogenital anomalies may also be associated. There is evidence the disease is caused by hemizygous mutation in the EBP gene on chromosome Xp11.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
A very rare developmental defect with connective tissue involvement disorder that has characteristics of 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 (such as 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 characterised by intellectual disability, significant motor delay, severe speech impairment, early-onset truncal hypotonia with progressive distal hypertonia/spasticity, microcephaly, and behavioural anomalies (autistic features, aggression or auto-aggressive behaviour, 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 (such as generalized ichthyosis, congenital alopecia universalis, dystrophic, convex nails), associated with hypohidrosis without hyperthermia, intellectual disability, seizures, and skeletal (for example proportionate short stature, platyspondyly) and intestinal (for example 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 (such as generalized ichthyosis, congenital alopecia universalis, dystrophic, convex nails), associated with hypohidrosis without hyperthermia, intellectual disability, seizures, and skeletal (for example proportionate short stature, platyspondyly) and intestinal (for example 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. Caused by heterozygous mutation in the SETD5 gene on chromosome 3p25.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare central nervous system malformation with characteristics of a 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 reported.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare genetic primary bone dysplasia disorder with characteristics of 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	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
Primær seboré	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	2
Hereditary erythrokeratolysis	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
Hyperkeratose	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
Lymfødematøs 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
Retentionshyperkeratose som følge af forsømmelighed	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
Erhvervet palmoplantar keratose	Associated morphology	False	Morphologically abnormal structure	Inferred relationship	Some	3
Erythrokeratoderma progressiva of Gottron (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
A rare genetic syndromic intellectual disability disorder with characteristics of congenital external nuclear ophthalmoplegia, lingua scrotalis, progressive chorioretinal sclerosis and intellectual disability. Bilateral ptosis, bilateral facial weakness, Parinaud 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
A rare genetic epidermal disease with characteristics of 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 (disorder)	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	2
A rare genetic polymalformative syndrome with increased risk of developing cancer, with characteristics of a Noonan-like phenotype, including typical dysmorphic facial features (such as high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent occurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity and hypotonia may also be associated. Caused by heterozygous mutation in the CBL gene.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
An extremely rare lethal primary bone dysplasia with characteristics of 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 with characteristics of increased radiosensitivity(R), mild immunodeficiency (ID), dysmorphic features (D) and learning difficulties (LE). There is evidence the disease is caused by homozygous or compound heterozygous mutation in the RNF168 gene on chromosome 3q29.	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare congenital anomaly of the inferior vena cava with characteristics of the postnatal presence of a eustachian valve remnant that 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, and 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
An extremely rare multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia and cleft palate. The syndrome is 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
A rare genetic developmental defect during embryogenesis disorder with characteristics of partial (unilateral testis, persistence of Mullerian 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 mini fascicular 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. May be caused by mutation in the desert hedgehog gene (DHH).	Associated morphology	True	Morphologically abnormal structure	Inferred relationship	Some	1
A rare genetic developmental defect during embryogenesis disorder with characteristics of 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. Caused by heterozygous, compound heterozygous or homozygous mutation in the CYP11A1 gene on chromosome 15q23-q24.	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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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)