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418560003: Absence (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2006. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2573418018 Absence (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2576693013 Absence en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
8681000077116 absence fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

17 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Absence (morphologic abnormality) Is a Morphologically abnormal structure true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital absence of thymus Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of gonads Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of spleen Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of sternum Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of urinary bladder Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of humerus Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of patella Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of urethra Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of eyelash Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of jejunum Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of clitoris (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of appendix Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of pancreas (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of stomach Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of ischium Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of maxilla Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of scapula Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of prostate Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of ear lobe Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of bronchus Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of vertebra Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of trachea Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of duodenum Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of mandible Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of fallopian tube Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of diaphragm Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of calcaneus Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of sternebra Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of eye bulge Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of bile duct Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of vena cava Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of one tooth Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of esophagus Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of left hand Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of nasal bone Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of premaxilla Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of all fingers Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of portal vein Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of gallbladder Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of epididymis Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of hyoid bone Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of upper limb Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of right hand Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of epiglottis (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of carpal bone Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of tarsal bone Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of azygos vein Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of both testes (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of both testes (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Congenital absence of labium minor Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of labium major Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of left testis (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of left lower limb (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Partial congenital absence of teeth Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 2
Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
A rare, genetic, neuro-endocrino-cutaneous disorder characterised by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynaecomastia, microcephaly and kyphoscoliosis. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 3
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
A rare, genetic, odontologic disease characterized by congenital absence of six or more permanent teeth (excluding the third molars) in association with an increased risk for malignancies, ranging from gastrointestinal polyposis to early-onset colorectal cancer and/or breast cancer. Ectodermal dysplasia (manifesting with sparse hair and/or eyebrows) may also be associated. Associated morphology False Absence (morphologic abnormality) Inferred relationship Some 2
Congenital alopecia Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Ectrodactyly-polydactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Thumb deformity-alopecia-pigmentation anomaly syndrome is a rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally placed thumbs, and skin hyperpigmentation with areas of raindrop depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 3
A rare, genetic, epilepsy syndrome characterized by congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Ulnar hypoplasia-split foot syndrome is characterized by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 3
Congenital absence of right mandibular condyle Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of left mandibular condyle Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of forearm and hand Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of forearm and hand Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Adactyly Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjögren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
A rare congenital anomaly of the great veins characterized by absence of the left brachiocephalic vein (or innominate vein), resulting in an anomalous venous vasculature. Patients are usually asymptomatic and the anomaly is typically discovered intraoperatively. An association with persistence of left superior vena cava, permanent levoatrial cardinal vein or anomaly of the inferior vena cava has been reported in some cases. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
A rare, genetic, multiple congenital anomalies syndrome characterized by variable expression of the holoprosencephaly (HPE) spectrum in association with ectrodactyly, cleft lip/palate and/or other ectodermal anomalies. Developmental delay of variable severity and endocrine abnormalities are often associated. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Congenital absence of left hemidiaphragm (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of right hemidiaphragm (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of right testis Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Aplasia cutis congenita of limb (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
An extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Intellectual disability-balding-patella luxation-acromicria syndrome is characterized by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
A rare neurocutaneous syndrome characterized by the association of cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia) abnormalities. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behavior and bipolar disorder have also been reported. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
A rare ophthalmic disorder characterized by bilateral ptosis, upper ocular movement limitation, absence of the lacrimal punctum and facial dysmorphism including, narrow and squared forehead, bilateral thick and arched eyebrows, absence of bilateral lower medial eyelashes, telecanthus, mild anteverted nostrils, a relatively long philtrum and maxillary hypoplasia. Some patients may have low set and dysplastic ears. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
A rare, genetic, frontonasal dysplasia characterized by coronal craniosynostosis, large skull defect with aplasia of ethmoid and nasal bones, hypertelorism, severely depressed nasal bridge and bifid nasal tip in association with total alopecia and hypogonadism. Intellectual disability is mild to moderate. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterised by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Congenital absence of part of upper limb Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Autosomal recessive aplasia cutis congenita of limb (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
A multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
A very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 3
A rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
A rare ectodermal dysplasia syndrome characterized by the association of ectodermal dysplasia (with hypotrichosis affecting scalp hair, eyebrows, and eyelashes, and partial anodontia), ectrodactyly, and macular dystrophy (appearing as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels). Variable additional limb defects (including absence deformities, polydactyly, syndactyly, or camptodactyly) have also been described, the hands often being more severely affected than the feet. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
A rare genetic syndromic intellectual disability that is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
A rare multiple congenital anomalies syndrome characterized by association of congenital total alopecia, mild intellectual deficit and hypergonadotropic hypogonadism. Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 2
Anonychia (disorder) Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 1
Anonychia with bizarre flexural pigmentation Associated morphology True Absence (morphologic abnormality) Inferred relationship Some 3

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