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766932005: Hypothalamic hamartoma with gelastic seizure (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3663210013 Hypothalamic hamartoma with gelastic seizure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3663211012 Hypothalamic hamartoma with gelastic seizure (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5404706016 Hypothalamic hamartomas with gelastic seizures is a rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404707013 Hypothalamic hamartomas with gelastic seizures is a rare cerebral malformation with epilepsy syndrome characterised by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalised seizures, with concomitant cognitive decline and behavioural disorders. Some patients also present a precocious puberty. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3663210013 Hypothalamic hamartoma with gelastic seizure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3663211012 Hypothalamic hamartoma with gelastic seizure (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3663212017 A rare cerebral malformation with epilepsy syndrome characterised by early-onset gelastic (ictal laughter) or dacrystic (ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalised seizures, with concomitant cognitive decline and behavioural disorders. Some patients also present a precocious puberty. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3663213010 A rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (ictal laughter) or dacrystic (ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404706016 Hypothalamic hamartomas with gelastic seizures is a rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404707013 Hypothalamic hamartomas with gelastic seizures is a rare cerebral malformation with epilepsy syndrome characterised by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalised seizures, with concomitant cognitive decline and behavioural disorders. Some patients also present a precocious puberty. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3453221001000114 Hypothalamus-Hamartom mit gelastischen Anfällen de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
891421000172119 hamartomes hypothalamiques avec épilepsie gélastique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
891421000172119 hamartomes hypothalamiques avec épilepsie gélastique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3453221001000114 Hypothalamus-Hamartom mit gelastischen Anfällen de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hypothalamic hamartoma with gelastic seizure Associated morphology Hamartoma true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypothalamic hamartoma with gelastic seizure Is a Gelastic seizure false Inferred relationship Existential restriction modifier (core metadata concept)
Hypothalamic hamartoma with gelastic seizure Finding site Hypothalamic structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypothalamic hamartoma with gelastic seizure Is a Hamartoma of hypothalamus true Inferred relationship Existential restriction modifier (core metadata concept)
Hypothalamic hamartoma with gelastic seizure Is a Developmental and epileptic encephalopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hypothalamic hamartoma with gelastic seizure Finding site Brain structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypothalamic hamartoma with gelastic seizure Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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