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204044008: Aplasia of corpus callosum (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2005. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
312895015 Aplasia of corpus callosum en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
589217018 Aplasia of corpus callosum (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
276181000077111 aplasie du corps calleux 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
Aplasia of corpus callosum Is a Congenital malformation of corpus callosum true Inferred relationship Some
Aplasia of corpus callosum Associated morphology anomalie congénitale false Inferred relationship Some 1
Aplasia of corpus callosum Finding site Brain structure false Inferred relationship Some 1
Aplasia of corpus callosum Finding site Corpus callosum structure false Inferred relationship Some 1
Aplasia of corpus callosum Associated morphology anomalie du développement false Inferred relationship Some 2
Aplasia of corpus callosum Finding site Structure of central nervous system (body structure) false Inferred relationship Some 2
Aplasia of corpus callosum Occurrence Congenital false Inferred relationship Some
Aplasia of corpus callosum Is a Lesion of brain false Inferred relationship Some
Aplasia of corpus callosum Is a Disorder of brain (disorder) false Inferred relationship Some
Aplasia of corpus callosum Associated morphology Aplasia false Inferred relationship Some 1
Aplasia of corpus callosum Is a Congenital and developmental anomalies of the nervous system false Inferred relationship Some
Aplasia of corpus callosum Associated morphology Aplasia true Inferred relationship Some 1
Aplasia of corpus callosum Finding site Corpus callosum structure true Inferred relationship Some 1
Aplasia of corpus callosum Is a Leukoencephalopathy false Inferred relationship Some
Aplasia of corpus callosum Is a Hemianencephaly true Inferred relationship Some
Aplasia of corpus callosum Is a Congenital brain aplasia (disorder) true Inferred relationship Some
Aplasia of corpus callosum Occurrence Congenital true Inferred relationship Some 1
Aplasia of corpus callosum Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Aplasia of corpus callosum Is a Hemicephaly true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Agenesis of corpus callosum Is a True Aplasia of corpus callosum Inferred relationship Some
Partial agenesis of corpus callosum Is a True Aplasia of corpus callosum Inferred relationship Some
Aicardi's syndrome Is a True Aplasia 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 True Aplasia 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 True Aplasia of corpus callosum Inferred relationship Some

Reference Sets

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