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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
4992941000172113 X-gebonden lissencefalie met ambigue genitalia nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
4992951000172110 syndroom van X-gebonden lissencefalie met agenesie van corpus callosum en genitale afwijkingen nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
4992961000172112 X-gebonden lissencefalie met genitale afwijkingen nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
4992971000172115 X-gebonden lissencefalie met abnormale genitalia nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
4992981000172117 XLAG nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
4992991000172119 X-gebonden lissencefalie-agenesie van corpus callosum-genitale afwijkingen-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian 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 Congenital anomaly 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 Developmental anomaly 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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