FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

24216005: Congenital absence (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
40644015 Congenital absence en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
753828014 Congenital absence (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital absence Is a Aplasia true Inferred relationship Some
Congenital absence Is a anomalie congénitale false Inferred relationship Some
Congenital absence Is a Congenital malformation false Inferred relationship Some
Congenital absence Is a Absence (morphologic abnormality) false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
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 False Congenital absence 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 False Congenital absence Inferred relationship Some 2
Congenital absence of left foot (disorder) Associated morphology False Congenital absence Inferred relationship Some 1
Congenital absence of lower leg and foot (disorder) Associated morphology False Congenital absence Inferred relationship Some 1
Congenital absence of lower leg and foot (disorder) Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of right foot Associated morphology False Congenital absence Inferred relationship Some 1
Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion. Associated morphology False Congenital absence Inferred relationship Some 5
Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion. Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of right hemidiaphragm (disorder) Associated morphology False Congenital absence Inferred relationship Some 1
Congenital absence of left testis (disorder) Associated morphology False Congenital absence Inferred relationship Some 1
Congenital absence of right testis Associated morphology False Congenital absence Inferred relationship Some 1
Congenital absence of left hemidiaphragm (disorder) Associated morphology False Congenital absence Inferred relationship Some 1
Common atrioventricular canal Associated morphology False Congenital absence Inferred relationship Some 2
Atrioventricular septal defect - isolated atrial component Associated morphology False Congenital absence Inferred relationship Some 1
Ventricular septal defect with absent outlet septum and overriding truncal valve with inferior muscular rim (disorder) Associated morphology False Congenital absence Inferred relationship Some 3
Ventricular septal defect with absent outlet septum and overriding truncal valve with extension of membranous septum (disorder) Associated morphology False Congenital absence Inferred relationship Some 3
Ventricular septal defect with absent outlet septum and overriding truncal valve (disorder) Associated morphology False Congenital absence Inferred relationship Some 3
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 False Congenital absence Inferred relationship Some 2
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 False Congenital absence 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 False Congenital absence Inferred relationship Some 2
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 False Congenital absence Inferred relationship Some 1
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 False Congenital absence 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 False Congenital absence Inferred relationship Some 3
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 False Congenital absence Inferred relationship Some 3
Anonychia with bizarre flexural pigmentation Associated morphology False Congenital absence Inferred relationship Some 3
Acephalogaster Associated morphology False Congenital absence Inferred relationship Some 1
Ear auricle and external auditory canal absent Associated morphology False Congenital absence Inferred relationship Some 1
Congenital absence of urinary bladder and urethra (disorder) Associated morphology False Congenital absence Inferred relationship Some 1
A rare, genetic, primary immunodeficiency due to a defect in adaptive immunity characterized by the triad of congenital athymia (resulting in severe T-cell immunodeficiency), congenital alopecia totalis and nail dystrophy. Patients present neonatal or infantile-onset, severe, recurrent, life-threatening infections and low or absent circulating T cells. Additional features reported include erythroderma, lymphoadenopathy, diarrhea and failure to thrive. Associated morphology False Congenital absence Inferred relationship Some 1
This syndrome has characteristics of congenital absence of the teeth and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families. Associated morphology False Congenital absence Inferred relationship Some 3
Congenital amputation of upper limb Associated morphology False Congenital absence Inferred relationship Some 1
The patients are born with hair that falls out and is not replaced. Histologic studies show malformation of the hair follicles. Papillary lesions over most of the body and almost complete absence of hair are features. Associated morphology False Congenital absence Inferred relationship Some 2
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder) Associated morphology False Congenital absence 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 False Congenital absence Inferred relationship Some 1
Hydranencephaly with proliferative vasculopathy Associated morphology False Congenital absence Inferred relationship Some 1
Bilateral congenital absence of fallopian tube (disorder) Associated morphology False Congenital absence Inferred relationship Some 1
An extremely rare congenital limb malformation syndrome, described in only 3 patients to date, characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991. Associated morphology False Congenital absence 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 False Congenital absence Inferred relationship Some 2
Autosomal recessive aplasia cutis congenita of limb (disorder) Associated morphology False Congenital absence Inferred relationship Some 1
A rare multiple congenital anomalies syndrome characterized by association of congenital total alopecia, mild intellectual deficit and hypergonadotropic hypogonadism. Associated morphology False Congenital absence Inferred relationship Some 2
Hydranencephaly Associated morphology False Congenital absence Inferred relationship Some 1
Deafness-oligodontia syndrome is characterized by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive. Associated morphology False Congenital absence Inferred relationship Some 1
Tetralogy of Fallot with absent pulmonary valve (disorder) Associated morphology False Congenital absence Inferred relationship Some 1
A rare, genetic, congenital dysostosis disorder characterized by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additional variable features include shortening of the femur, as well as tibial, hip, knee, and/or ankle defects. Associated morphology False Congenital absence 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 False Congenital absence Inferred relationship Some 1
A polymalformative syndrome characterized by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. Associated morphology False Congenital absence Inferred relationship Some 2
An extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome. Associated morphology False Congenital absence Inferred relationship Some 1
Bilateral congenital absence of ovary (disorder) Associated morphology False Congenital absence Inferred relationship Some 1
Fetal anencephaly (disorder) Associated morphology False Congenital absence 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 False Congenital absence Inferred relationship Some 3
A rare disorder characterized by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant. Associated morphology False Congenital absence Inferred relationship Some 1
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 False Congenital absence Inferred relationship Some 1
Congenital absence of forearm and hand Associated morphology False Congenital absence Inferred relationship Some 1
Congenital absence of forearm and hand Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of forearm and hand Associated morphology False Congenital absence Inferred relationship Some 3
Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit. Associated morphology False Congenital absence Inferred relationship Some 2
An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. Associated morphology False Congenital absence 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 False Congenital absence 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 False Congenital absence Inferred relationship Some 1
Omocephalus Associated morphology False Congenital absence Inferred relationship Some 1
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness (disorder) Associated morphology False Congenital absence Inferred relationship Some 1
A rare congenital malformation syndrome characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. There have been no further descriptions in the literature since 1971. Associated morphology False Congenital absence Inferred relationship Some 2
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 False Congenital absence Inferred relationship Some 2
Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum. Associated morphology False Congenital absence Inferred relationship Some 1
An extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability. Associated morphology False Congenital absence Inferred relationship Some 2
Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect. Associated morphology False Congenital absence Inferred relationship Some 2
Hypogonadism with prune belly syndrome Associated morphology False Congenital absence Inferred relationship Some 3
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Associated morphology False Congenital absence 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 False Congenital absence 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 False Congenital absence Inferred relationship Some 1
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Associated morphology False Congenital absence Inferred relationship Some 1
A rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia. Associated morphology False Congenital absence Inferred relationship Some 2
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 False Congenital absence 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 Congenital absence Inferred relationship Some 2
SCALP syndrome is a rare skin disease characterized by the association of sebaceous nevus and aplasia cutis congenita (usually on the scalp and face) in conjunction with limbal dermoid of the eye, a giant congenital melanocytic nevus and variable central nervous system abnormalities, including seizures, hydrocephalus, neurocutaneous melanosis, arachnoid cysts, and diffuse unilateral hemisphere enlargement. Associated morphology False Congenital absence Inferred relationship Some 2
A rare skin disorder characterized by the co-occurrence of sebaceous nevi with aplasia cutis congenita located directly adjacent or in close proximity and ocular abnormalities including limbal dermoids and coloboma of the conjunctiva. Associated morphology False Congenital absence Inferred relationship Some 1
Congenital absence of left forearm and hand (disorder) Associated morphology False Congenital absence Inferred relationship Some 4
Congenital absence of left forearm and hand (disorder) Associated morphology False Congenital absence Inferred relationship Some 1
Congenital absence of left forearm and hand (disorder) Associated morphology False Congenital absence Inferred relationship Some 3
Congenital absence of left forearm and hand (disorder) Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of right forearm and hand Associated morphology False Congenital absence Inferred relationship Some 4
Congenital absence of right forearm and hand Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of right forearm and hand Associated morphology False Congenital absence Inferred relationship Some 3
Congenital absence of right forearm and hand Associated morphology False Congenital absence Inferred relationship Some 1
Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth. Associated morphology False Congenital absence Inferred relationship Some 1
Transverse arrest carpal level Associated morphology False Congenital absence Inferred relationship Some 1
Transverse arrest metacarpal first ray Associated morphology False Congenital absence Inferred relationship Some 1
Intrauterine amputation of lower limb Associated morphology False Congenital absence Inferred relationship Some 1
Transverse deficiency of hand Associated morphology False Congenital absence Inferred relationship Some 1
Transverse arrest metacarpal second to fifth rays Associated morphology False Congenital absence Inferred relationship Some 1
Cor biloculare Associated morphology False Congenital absence Inferred relationship Some 2
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 False Congenital absence Inferred relationship Some 1
Congenital absence of body of uterus (disorder) Associated morphology False Congenital absence Inferred relationship Some 1
Epidermolysis bullosa simplex with hypodontia Associated morphology False Congenital absence Inferred relationship Some 3
Congenital absence of skin on scalp Associated morphology False Congenital absence Inferred relationship Some 2
Complete congenital absence of pulmonary trunk with complete congenital absence of pulmonary artery (disorder) Associated morphology False Congenital absence Inferred relationship Some 2
Complete congenital absence of pulmonary trunk with complete congenital absence of left pulmonary artery (disorder) Associated morphology False Congenital absence Inferred relationship Some 2
Complete congenital absence of pulmonary trunk with complete congenital absence of right pulmonary artery (disorder) Associated morphology False Congenital absence Inferred relationship Some 2
Aplasia cutis congenita of limb (disorder) Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of epiglottis (disorder) Associated morphology False Congenital absence Inferred relationship Some 1
Congenital absence of all bilateral toes Associated morphology False Congenital absence Inferred relationship Some 1

Start Previous Page 19 of 20 End

This concept is not in any reference sets

Back to Start