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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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked lissencephaly with abnormal genitalia syndrome morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
X-linked lissencephaly with abnormal genitalia syndrome survenue (attribut) congénital 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 survenue (attribut) congénital true Inferred relationship Some 2
X-linked lissencephaly with abnormal genitalia syndrome localisation d'une constatation (attribut) 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 localisation d'une constatation (attribut) Entire corpus callosum true Inferred relationship Some 2
X-linked lissencephaly with abnormal genitalia syndrome morphologie associée (attribut) Agenesis (morphologic abnormality) true Inferred relationship Some 2
X-linked lissencephaly with abnormal genitalia syndrome est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
X-linked lissencephaly with abnormal genitalia syndrome est un(e) (attribut) X-linked recessive hereditary disease true Inferred relationship Some
X-linked lissencephaly with abnormal genitalia syndrome est un(e) (attribut) agénésie du corps calleux (trouble) true Inferred relationship Some
X-linked lissencephaly with abnormal genitalia syndrome est un(e) (attribut) X-linked hereditary disease false Inferred relationship Some
X-linked lissencephaly with abnormal genitalia syndrome est un(e) (attribut) Lissencephaly true Inferred relationship Some
X-linked lissencephaly with abnormal genitalia syndrome est un(e) (attribut) Congenital malformation of genital organs true Inferred relationship Some
X-linked lissencephaly with abnormal genitalia syndrome est un(e) (attribut) Hereditary disorder of nervous system true Inferred relationship Some
X-linked lissencephaly with abnormal genitalia syndrome est un(e) (attribut) Reproductive system hereditary disorder true Inferred relationship Some
X-linked lissencephaly with abnormal genitalia syndrome morphologie associée (attribut) Congenital absence false Inferred relationship Some 3
X-linked lissencephaly with abnormal genitalia syndrome survenue (attribut) congénital false Inferred relationship Some 3
X-linked lissencephaly with abnormal genitalia syndrome localisation d'une constatation (attribut) Entire corpus callosum false Inferred relationship Some 3
X-linked lissencephaly with abnormal genitalia syndrome morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 4
X-linked lissencephaly with abnormal genitalia syndrome localisation d'une constatation (attribut) structure de l'encéphale false Inferred relationship Some 4
X-linked lissencephaly with abnormal genitalia syndrome morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 5
X-linked lissencephaly with abnormal genitalia syndrome survenue (attribut) congénital false Inferred relationship Some 5
X-linked lissencephaly with abnormal genitalia syndrome localisation d'une constatation (attribut) Genital structure false Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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