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723501008: Renier Gabreels Jasper syndrome (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3424853015 Renier Gabreels Jasper syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3424854014 Renier Gabreels Jasper syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3424855010 An X-linked mental retardation syndrome belonging to the group of conditions with the association of intellectual deficit with hypotonic facies. Prevalence is unknown but the syndrome was first described in 1982 in five males from two generations of one family (three brothers and two of their maternal uncles). The syndrome has characteristics of the association of microcephaly, spasticity, epilepsy, deafness and severe intellectual deficit. Female carriers show microcephaly and subnormal intelligence. Transmission is X-linked en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3979081000052110 Renier-Gabreels-Jaspers syndrom sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Renier-Gabreels-Jaspers syndrom	Is a	mikrocefali	false	Inferred relationship	Some
Renier-Gabreels-Jaspers syndrom	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Renier-Gabreels-Jaspers syndrom	Is a	Multiple malformation syndrome with facial defects as major feature	false	Inferred relationship	Some
Renier-Gabreels-Jaspers syndrom	Is a	mental retardation	false	Inferred relationship	Some
Renier-Gabreels-Jaspers syndrom	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Renier-Gabreels-Jaspers syndrom	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Renier-Gabreels-Jaspers syndrom	Associated morphology	Congenital smallness	false	Inferred relationship	Some	2
Renier-Gabreels-Jaspers syndrom	Occurrence	Congenital	false	Inferred relationship	Some	2
Renier-Gabreels-Jaspers syndrom	Finding site	Brain structure	false	Inferred relationship	Some	2
Renier-Gabreels-Jaspers syndrom	Occurrence	Congenital	false	Inferred relationship	Some	3
Renier-Gabreels-Jaspers syndrom	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	2
Renier-Gabreels-Jaspers syndrom	Finding site	Face structure	false	Inferred relationship	Some	2
Renier-Gabreels-Jaspers syndrom	Associated morphology	Congenital smallness	false	Inferred relationship	Some	3
Renier-Gabreels-Jaspers syndrom	Finding site	Brain structure	false	Inferred relationship	Some	3
Renier-Gabreels-Jaspers syndrom	Is a	Intellectual disability	false	Inferred relationship	Some
Renier-Gabreels-Jaspers syndrom	Occurrence	Congenital	false	Inferred relationship	Some	1
Renier-Gabreels-Jaspers syndrom	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
Renier-Gabreels-Jaspers syndrom	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Renier-Gabreels-Jaspers syndrom	Finding site	Face structure	false	Inferred relationship	Some	1
Renier-Gabreels-Jaspers syndrom	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	1
Renier-Gabreels-Jaspers syndrom	Is a	Developmental hereditary disorder	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Concept inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3424853015	Renier Gabreels Jasper syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3424854014	Renier Gabreels Jasper syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3424855010	An X-linked mental retardation syndrome belonging to the group of conditions with the association of intellectual deficit with hypotonic facies. Prevalence is unknown but the syndrome was first described in 1982 in five males from two generations of one family (three brothers and two of their maternal uncles). The syndrome has characteristics of the association of microcephaly, spasticity, epilepsy, deafness and severe intellectual deficit. Female carriers show microcephaly and subnormal intelligence. Transmission is X-linked	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3979081000052110	Renier-Gabreels-Jaspers syndrom	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)