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782173000: Agenesis (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3752699013 Agenesis (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3752700014 Agenesis en Synonym (core metadata concept) 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
Agenesis (morphologic abnormality) Is a Aplasia true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital absence of radius Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of pubis Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of basioccipital bone Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Absent testicle (congenital) Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of fifth metatarsal Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of calcaneus Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of carpal bone Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of humerus Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of vulva Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of centrum of cervical vertebra Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of centrum of sacral vertebra Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of multiple metatarsal bones Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of cervical vertebra Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of parietal bone Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of foot (disorder) Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of tarsals and metatarsals Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of tarsals and metatarsals Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 2
Congenital absence of diaphragm Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of presphenoid bone Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of ossicles of ear Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of ilium Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Amyelia Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Oligohydramnios sequence Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 2
Oligohydramnios sequence Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of interparietal bone Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of arch of lumbar vertebra Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of fourth and fifth metatarsals Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 2
Agenesis of fourth and fifth metatarsals Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of lumbar vertebra Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of metacarpal bone Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of metatarsal bone Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of vagina Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of liver Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of thymus Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of carpals and metacarpals Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 2
Agenesis of carpals and metacarpals Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of nipple Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of vertebra Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of thoracic vertebra Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of nasal bone Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of lobe of liver Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
A rare polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual disability. Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of femur Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Acheiropodia Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Acheiropodia Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 4
Acheiropodia Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 2
Acheiropodia Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 3
Agenesis of multiple tarsal bones Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital agenesis of brainstem nuclei Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency. Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of basisphenoid bone Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
A rare neurologic disease characterised by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis. Absence or hypoplasia of the cerebellum and severe intra-uterine growth retardation can be detected prenatally. Patients also present with facial dysmorphism (a triangular face, small chin, low set ears), flexion contractures of the arms and legs, very little subcutaneous fat, and optic nerve hypoplasia. The disease is lethal in the neonatal period. Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 2
X-linked cerebral-cerebellar-coloboma syndrome is a rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures. Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 2
Congenital absence of clitoris (disorder) Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Bilateral congenital absence of feet (disorder) Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Bilateral congenital absence of feet (disorder) Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 2
Congenital absence of both testes (disorder) Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 2
Congenital absence of both testes (disorder) Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of eyelash Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (prominent supraorbital ridges, synophrys, large eyes) and optic atrophy have been observed. Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 2
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 True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of gallbladder Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of frontal bone Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of larynx, trachea and bronchus Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of larynx, trachea and bronchus Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 3
Agenesis of larynx, trachea and bronchus Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 2
An extremely rare syndrome reported in two siblings of non-consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974. Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 2
Congenital absence of tarsal bone Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality. Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 2
Congenital absence of hyoid bone Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Isolated arhinencephaly is a rare non-syndromic central nervous system malformation defined by the agenesis of the olfactory bulbs and tracts and characterized by complete congenital anosmia. Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Isolated arhinencephaly is a rare non-syndromic central nervous system malformation defined by the agenesis of the olfactory bulbs and tracts and characterized by complete congenital anosmia. Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 2
Congenital absence of ischium Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Communicating hydrocephalus co-occurrent and due to congenital agenesis of arachnoid villi (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of centrum of lumbar vertebra Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
WNT4 Mullerian aplasia and ovarian dysfunction Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 2
Congenital absence of parathyroid gland Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
A rare developmental defect during embryogenesis malformation syndrome characterized by congenital, non-communicating hydrocephalus, cerebellar agenesis and absence of the Luschka and Magendie foramina. Patients present with hypotonia, areflexia or hyporeflexia, seizures and/or cyanosis shortly after birth. The condition is fatal in the neonatal period. There have been no further descriptions in the literature since 1978. Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 2
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature. Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of corpus callosum with lipoma Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
syndrome de déficience intellectuelle liée à l'X-agénésie du corps calleux-quadriparésie spastique Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of punctum lacrimale Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of arch of sacral vertebra Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Internal carotid artery (ICA) agenesis (uni or bilateral) is a developmental defect that may be asymptomatic or lead to cerebrovascular lesions. It is a rare malformation, with only around a hundred cases reported in the literature. When symptoms are present, they are caused by cerebrovascular insufficiency, compression of the brain by vessels that dilate to compensate for the absence of the ICA, or the presence of an aneurysm. Associated intracranial aneurysms occur in 25 to 35% of patients and are often responsible for intracranial hemorrhage, which may present as the initial symptom. The absence of the ICA is the result of either agenesis or aplasia. The term agenesis is used when both the ICA and its bony canal are absent, whereas there is some evidence of carotid canals in cases of aplasia. The absence of the ICA can be detected by angiography or by computerized tomography. Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus. Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 2
Congenital absence of squamosal bone Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by lissencephaly, agenesis of the corpus callosum and other cerebral structural anomalies, early-onset intractable seizures, and ambiguous genitalia. Consequences of hypothalamic dysfunction, such as disturbed temperature regulation, may be observed. Additional anomalies including dysmorphic craniofacial features have been reported. The disease is fatal in infancy or childhood in males, while female carriers may be unaffected or show a milder phenotype with developmental delay, behavioral abnormalities, and seizures. Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 2
Congenital absence of centrum of thoracic vertebra Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of trachea Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Right renal agenesis co-occurrent with left renal hypoplasia Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of right kidney co-occurrent with congenital dysplasia of left kidney (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of tympanic anulus Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of uterus Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Agenesis of left kidney co-occurrent with congenital dysplasia of right kidney (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of zygomatic bone Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of intestinal tract Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Complete ablepharon Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Mullerian aplasia Associated morphology False Agenesis (morphologic abnormality) Inferred relationship Some 1
Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterised by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992. Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Congenital absence of eustachian tube Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 1
Duane-radial ray syndrome (disorder) Associated morphology True Agenesis (morphologic abnormality) Inferred relationship Some 2

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