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725418006: Cerebral gigantism jaw cysts syndrome (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3442476016 Cerebral gigantism jaw cysts syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3442477013 Cerebral gigantism jaw cysts syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3442478015 Cramer Niederdellmann syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3442479011 Syndrome that is characterized by cerebral gigantism associated with a jaw cyst basal cell nevoid syndrome. It has been reported in less than ten patients from two families. Neurological manifestations include hydrocephalus, ventricular malformation, a cerebellar syndrome, intracranial calcification, oculomotor disturbances and in some cases mild peripheral nervous disorders. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3442480014 Syndrome that is characterised by cerebral gigantism associated with a jaw cyst basal cell naevoid syndrome. It has been reported in less than ten patients from two families. Neurological manifestations include hydrocephalus, ventricular malformation, a cerebellar syndrome, intracranial calcification, oculomotor disturbances and in some cases mild peripheral nervous disorders. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

876771000172113 syndrome de gigantisme cérébral-kystes maxillaires fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

949781000172114 syndrome de Cramer-Niederdellmann fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

968961000172117 syndroom van Cramer-Niederdellmann nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

1001161000172118 cerebrale reuzengroei, kaakcysten-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
syndrome de gigantisme cérébral-kystes maxillaires	Is a	Multiple malformation syndrome with early overgrowth	false	Inferred relationship	Some
syndrome de gigantisme cérébral-kystes maxillaires	Is a	Congenital anomaly of central nervous system	false	Inferred relationship	Some
syndrome de gigantisme cérébral-kystes maxillaires	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	1
syndrome de gigantisme cérébral-kystes maxillaires	Occurrence	Congenital	false	Inferred relationship	Some	1
syndrome de gigantisme cérébral-kystes maxillaires	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	1
syndrome de gigantisme cérébral-kystes maxillaires	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
syndrome de gigantisme cérébral-kystes maxillaires	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Concept inactivation indicator reference set

REPLACED BY association reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3442476016	Cerebral gigantism jaw cysts syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3442477013	Cerebral gigantism jaw cysts syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3442478015	Cramer Niederdellmann syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3442479011	Syndrome that is characterized by cerebral gigantism associated with a jaw cyst basal cell nevoid syndrome. It has been reported in less than ten patients from two families. Neurological manifestations include hydrocephalus, ventricular malformation, a cerebellar syndrome, intracranial calcification, oculomotor disturbances and in some cases mild peripheral nervous disorders.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3442480014	Syndrome that is characterised by cerebral gigantism associated with a jaw cyst basal cell naevoid syndrome. It has been reported in less than ten patients from two families. Neurological manifestations include hydrocephalus, ventricular malformation, a cerebellar syndrome, intracranial calcification, oculomotor disturbances and in some cases mild peripheral nervous disorders.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
876771000172113	syndrome de gigantisme cérébral-kystes maxillaires	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
949781000172114	syndrome de Cramer-Niederdellmann	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
968961000172117	syndroom van Cramer-Niederdellmann	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
1001161000172118	cerebrale reuzengroei, kaakcysten-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)