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5102002: Agenesis of corpus callosum (disorder)

Status: current, 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
9538013 Agenesis of corpus callosum en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
788874019 Agenesis of corpus callosum (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1230935011 Congenital absence of corpus callosum en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1230936012 ACC - Agenesis of corpus callosum en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2966600018 Absent corpus callosum en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
538231000172115 agénésie du corps calleux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3421821001000112 Corpus callosum-Agenesie, isolierte Form de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

11 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Agenesis of corpus callosum Is a Congenital malformation of corpus callosum false Inferred relationship Some
Agenesis of corpus callosum Is a Congenital absence of part of brain false Inferred relationship Some
Agenesis of corpus callosum Associated morphology anomalie du développement false Inferred relationship Some 1
Agenesis of corpus callosum Finding site Brain structure false Inferred relationship Some 2
Agenesis of corpus callosum Finding site Structure of central nervous system (body structure) false Inferred relationship Some 2
Agenesis of corpus callosum Finding site Corpus callosum structure false Inferred relationship Some 1
Agenesis of corpus callosum Occurrence Congenital false Inferred relationship Some
Agenesis of corpus callosum Associated morphology Congenital partial absence false Inferred relationship Some 2
Agenesis of corpus callosum Associated morphology Congenital absence false Inferred relationship Some 1
Agenesis of corpus callosum Is a Congenital absence of the spinal cord and brain false Inferred relationship Some
Agenesis of corpus callosum Finding site Corpus callosum structure false Inferred relationship Some 3
Agenesis of corpus callosum Finding site Corpus callosum structure false Inferred relationship Some 2
Agenesis of corpus callosum Finding site Corpus callosum structure false Inferred relationship Some 1
Agenesis of corpus callosum Is a Congenital malformation false Inferred relationship Some
Agenesis of corpus callosum Is a Congenital anomaly of brain false Inferred relationship Some
Agenesis of corpus callosum Is a Aplasia of corpus callosum true Inferred relationship Some
Agenesis of corpus callosum Is a Congenital absence of the spinal cord and brain false Inferred relationship Some
Agenesis of corpus callosum Associated morphology Congenital absence false Inferred relationship Some 1
Agenesis of corpus callosum Finding site Corpus callosum structure false Inferred relationship Some 1
Agenesis of corpus callosum Is a Congenital malformation of corpus callosum false Inferred relationship Some
Agenesis of corpus callosum Occurrence Congenital true Inferred relationship Some 1
Agenesis of corpus callosum Is a Agenesis of cerebrum false Inferred relationship Some
Agenesis of corpus callosum Associated morphology Congenital absence false Inferred relationship Some 1
Agenesis of corpus callosum Finding site Corpus callosum structure false Inferred relationship Some 2
Agenesis of corpus callosum Finding site Entire corpus callosum true Inferred relationship Some 1
Agenesis of corpus callosum Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Agenesis of corpus callosum Associated morphology Agenesis (morphologic abnormality) true Inferred relationship Some 1
Agenesis of corpus callosum Is a Partial agenesis of corpus callosum false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Agenesis of corpus callosum with lipoma Is a True Agenesis of corpus callosum Inferred relationship Some
Partial agenesis of corpus callosum Is a False Agenesis of corpus callosum Inferred relationship Some
Aicardi's syndrome Is a False Agenesis of corpus callosum Inferred relationship Some
A rare polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual disability. Is a True Agenesis of corpus callosum Inferred relationship Some
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. Is a True Agenesis of corpus callosum Inferred relationship Some
syndrome de déficience intellectuelle liée à l'X-agénésie du corps calleux-quadriparésie spastique Is a False Agenesis of corpus callosum Inferred relationship Some
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. Is a True Agenesis of corpus callosum Inferred relationship Some
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. Is a False Agenesis of corpus callosum Inferred relationship Some
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. Is a False Agenesis of corpus callosum Inferred relationship Some
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. Is a True Agenesis of corpus callosum Inferred relationship Some
This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus. Is a True Agenesis of corpus callosum Inferred relationship Some
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. Is a True Agenesis of corpus callosum Inferred relationship Some
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. Is a True Agenesis of corpus callosum Inferred relationship Some
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. Is a True Agenesis of corpus callosum Inferred relationship Some
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. Is a True Agenesis of corpus callosum Inferred relationship Some
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. Is a True Agenesis of corpus callosum Inferred relationship Some

This concept is not in any reference sets

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