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253140003: Partial agenesis of corpus callosum (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2015. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
377027012 Partial agenesis of corpus callosum en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
643863014 Partial agenesis of corpus callosum (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
377027012 Partial agenesis of corpus callosum en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
377027012 Partial agenesis of corpus callosum en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
643863014 Partial agenesis of corpus callosum (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
643863014 Partial agenesis of corpus callosum (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5068971000241112 agénésie partielle du corps calleux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5068971000241112 agénésie partielle du corps calleux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


1 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Partial agenesis of corpus callosum Is a Agenesis of corpus callosum false Inferred relationship Existential restriction modifier (core metadata concept)
Partial agenesis of corpus callosum Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
Partial agenesis of corpus callosum Finding site Brain structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial agenesis of corpus callosum Finding site Structure of central nervous system false Inferred relationship Existential restriction modifier (core metadata concept) 2
Partial agenesis of corpus callosum Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Partial agenesis of corpus callosum Finding site Corpus callosum structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Partial agenesis of corpus callosum Associated morphology Congenital partial absence false Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial agenesis of corpus callosum Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial agenesis of corpus callosum Finding site Corpus callosum structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Partial agenesis of corpus callosum Finding site Corpus callosum structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Partial agenesis of corpus callosum Finding site Corpus callosum structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial agenesis of corpus callosum Is a Congenital absence of part of brain false Inferred relationship Existential restriction modifier (core metadata concept)
Partial agenesis of corpus callosum Associated morphology Congenital partial absence false Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial agenesis of corpus callosum Finding site Corpus callosum structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial agenesis of corpus callosum Finding site Corpus callosum structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Partial agenesis of corpus callosum Associated morphology Congenital partial absence false Inferred relationship Existential restriction modifier (core metadata concept) 3
Partial agenesis of corpus callosum Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Partial agenesis of corpus callosum Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Partial agenesis of corpus callosum Finding site Corpus callosum structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Partial agenesis of corpus callosum Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial agenesis of corpus callosum Finding site Corpus callosum structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial agenesis of corpus callosum Is a Congenital malformation of corpus callosum false Inferred relationship Existential restriction modifier (core metadata concept)
Partial agenesis of corpus callosum Is a Aplasia of corpus callosum true Inferred relationship Existential restriction modifier (core metadata concept)
Partial agenesis of corpus callosum Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial agenesis of corpus callosum Finding site Corpus callosum part true Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial agenesis of corpus callosum Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial agenesis of corpus callosum Associated morphology Aplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial agenesis of corpus callosum Is a Congenital brain aplasia (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Partial agenesis of corpus callosum Associated morphology Agenesis (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Hypoplasia of corpus callosum Is a False Partial agenesis of corpus callosum Inferred relationship Existential restriction modifier (core metadata concept)
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome Is a True Partial agenesis of corpus callosum Inferred relationship Existential restriction modifier (core metadata concept)
A very rare congenital genetic neurological disorder characterised by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities. Is a False Partial agenesis of corpus callosum Inferred relationship Existential restriction modifier (core metadata concept)
Curry-Jones syndrome is a form of syndromic craniosynostosis characterised 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 Partial agenesis of corpus callosum Inferred relationship Existential restriction modifier (core metadata concept)
Agenesis of corpus callosum Is a False Partial agenesis of corpus callosum Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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