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362354006: Entire corpus callosum (body structure)


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
479977017 Entire corpus callosum en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
748347014 Entire corpus callosum (body structure) 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
Entire corpus callosum Is a Corpus callosum structure true Inferred relationship Some
Entire corpus callosum partie de Entire cerebral white matter false Additional relationship Some
Entire corpus callosum Laterality Side (qualifier value) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Entire body of corpus callosum partie de False Entire corpus callosum Additional relationship Some
Entire genu of corpus callosum partie de False Entire corpus callosum Additional relationship Some
Entire rostrum of corpus callosum partie de False Entire corpus callosum Additional relationship Some
Entire splenium of corpus callosum partie de False Entire corpus callosum Additional relationship Some
Structure of splenium of corpus callosum partie de False Entire corpus callosum Additional relationship Some
Structure of temporal radiation of corpus callosum partie de False Entire corpus callosum Additional relationship Some
Structure of lamina terminalis of corpus callosum partie de False Entire corpus callosum Additional relationship Some
Structure of forceps minor partie de False Entire corpus callosum Additional relationship Some
Structure of rostrum of corpus callosum partie de False Entire corpus callosum Additional relationship Some
Structure of genu of corpus callosum partie de False Entire corpus callosum Additional relationship Some
Structure of body of corpus callosum partie de False Entire corpus callosum Additional relationship Some
Entire forceps minor partie de False Entire corpus callosum Additional relationship Some
Entire temporal radiation of corpus callosum partie de False Entire corpus callosum Additional relationship Some
Entire lamina terminalis of corpus callosum partie de False Entire corpus callosum Additional relationship Some
Agenesis of corpus callosum Finding site True Entire corpus callosum Inferred relationship Some 1
Aicardi's syndrome Finding site False Entire corpus callosum Inferred relationship Some 2
Agenesis of corpus callosum with lipoma Finding site True Entire corpus callosum 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. Finding site False Entire corpus callosum Inferred relationship Some 3
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. Finding site False Entire corpus callosum Inferred relationship Some 3
syndrome de déficience intellectuelle liée à l'X-agénésie du corps calleux-quadriparésie spastique Finding site False Entire corpus callosum Inferred relationship Some 2
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. Finding site False Entire corpus callosum Inferred relationship Some 5
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities. Finding site False Entire corpus callosum Inferred relationship Some 4
Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported. Finding site False Entire corpus callosum Inferred relationship Some 5
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. Finding site False Entire corpus callosum Inferred relationship Some 4
This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus. Finding site False Entire corpus callosum Inferred relationship Some 3
This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus. Finding site True Entire corpus callosum Inferred relationship Some 2
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. Finding site True Entire corpus callosum Inferred relationship Some 2
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. Finding site False Entire corpus callosum 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. Finding site True Entire corpus callosum Inferred relationship Some 1
syndrome de déficience intellectuelle liée à l'X-agénésie du corps calleux-quadriparésie spastique Finding site False Entire corpus callosum 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. Finding site True Entire corpus callosum Inferred relationship Some 2
A rare polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual disability. Finding site True Entire corpus callosum Inferred relationship Some 1
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. Finding site True Entire corpus callosum 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. Finding site True Entire corpus callosum 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. Finding site True Entire corpus callosum Inferred relationship Some 2
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by agenesis of the corpus callosum, borderline or mild intellectual disability, macrocephaly, and dysmorphic facial features (broad forehead, widely spaced eyes). Chiari type I malformation has also been reported in association. Finding site True Entire corpus callosum Inferred relationship Some 5
A rare genetic neurological disorder characterized by congenital microcephaly, severe intellectual disability, hypertonia at birth lessening with age, ataxia, and specific dysmorphic facial features including hirsutism, low anterior hairline and bitemporal narrowing, arched, thick, and medially sparse eyebrows, long eyelashes, lateral upper eyelids swelling and a skin fold partially covering the inferior eyelids, low-set posteriorly rotated protruding ears, anteverted nares, and a full lower lip. Brain imaging shows partial to almost complete agenesis of the corpus callosum and variable degrees of cerebellar hypoplasia. Finding site True Entire corpus callosum Inferred relationship Some 4

Reference Sets

Lateralizable body structure reference set (foundation metadata concept)

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