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717632002: X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3309867016 X-linked lissencephaly with abnormal genitalia syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3309868014 X-linked lissencephaly with ambiguous genitalia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3309870017 X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3309871018 X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3309869018 A severe neurological disorder that only manifests in genotypic males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3869151000052118 X-bundet syndrom med lissencefali och onormala könsorgan sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked lissencephaly with abnormal genitalia syndrome Is a Agenesis of corpus callosum true Inferred relationship Some
X-linked lissencephaly with abnormal genitalia syndrome Is a X-linked hereditary disease false Inferred relationship Some
X-linked lissencephaly with abnormal genitalia syndrome Is a Lissencephaly true Inferred relationship Some
X-linked lissencephaly with abnormal genitalia syndrome Is a Congenital malformation of genital organs (disorder) true Inferred relationship Some
X-linked lissencephaly with abnormal genitalia syndrome Is a Hereditary disorder of nervous system true Inferred relationship Some
X-linked lissencephaly with abnormal genitalia syndrome Is a Reproductive system hereditary disorder true Inferred relationship Some
X-linked lissencephaly with abnormal genitalia syndrome Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 3
X-linked lissencephaly with abnormal genitalia syndrome Occurrence Congenital false Inferred relationship Some 3
X-linked lissencephaly with abnormal genitalia syndrome Finding site Entire corpus callosum false Inferred relationship Some 3
X-linked lissencephaly with abnormal genitalia syndrome Associated morphology kongenital anomali false Inferred relationship Some 4
X-linked lissencephaly with abnormal genitalia syndrome Finding site Brain structure false Inferred relationship Some 4
X-linked lissencephaly with abnormal genitalia syndrome Associated morphology utvecklingsabnormitet false Inferred relationship Some 5
X-linked lissencephaly with abnormal genitalia syndrome Occurrence Congenital false Inferred relationship Some 5
X-linked lissencephaly with abnormal genitalia syndrome Finding site Genital structure false Inferred relationship Some 5
X-linked lissencephaly with abnormal genitalia syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
X-linked lissencephaly with abnormal genitalia syndrome Occurrence Congenital true Inferred relationship Some 1
X-linked lissencephaly with abnormal genitalia syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
X-linked lissencephaly with abnormal genitalia syndrome Occurrence Congenital true Inferred relationship Some 2
X-linked lissencephaly with abnormal genitalia syndrome Finding site Genital structure true Inferred relationship Some 1
X-linked lissencephaly with abnormal genitalia syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
X-linked lissencephaly with abnormal genitalia syndrome Finding site Entire corpus callosum true Inferred relationship Some 2
X-linked lissencephaly with abnormal genitalia syndrome Associated morphology Agenesis (morphologic abnormality) true Inferred relationship Some 2
X-linked lissencephaly with abnormal genitalia syndrome Is a Developmental hereditary disorder true Inferred relationship Some
X-linked lissencephaly with abnormal genitalia syndrome Is a X-linked recessive hereditary disease true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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