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766884000: Familial lambdoid synostosis (disorder)

Descriptions:

Id Description Lang Type Status Case? Module

3663012010 Familial lambdoid synostosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3663013017 Familial lambdoid synostosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3663016013 A rare genetic cranial malformation with characteristics of unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4148181000052116 familjär lambdoideasynostos sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
familjär lambdoideasynostos	Is a	Parieto-occipital craniosynostosis	false	Inferred relationship	Some
familjär lambdoideasynostos	Occurrence	Congenital	false	Inferred relationship	Some	2
familjär lambdoideasynostos	Occurrence	Congenital	false	Inferred relationship	Some	1
familjär lambdoideasynostos	Is a	Familial disease	false	Inferred relationship	Some
familjär lambdoideasynostos	Finding site	Joint structure of suture of skull	false	Inferred relationship	Some	2
familjär lambdoideasynostos	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Some	1
familjär lambdoideasynostos	Finding site	Structure of lambdoid suture of skull	false	Inferred relationship	Some	1
familjär lambdoideasynostos	Associated morphology	Congenital premature fusion	false	Inferred relationship	Some	2
familjär lambdoideasynostos	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
familjär lambdoideasynostos	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
familjär lambdoideasynostos	Associated morphology	Congenital premature fusion	false	Inferred relationship	Some	1
familjär lambdoideasynostos	Is a	Genetic disease	false	Inferred relationship	Some

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Reference Sets

Concept inactivation indicator reference set

Id	Description	Lang	Type	Status	Case?	Module
3663012010	Familial lambdoid synostosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3663013017	Familial lambdoid synostosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3663016013	A rare genetic cranial malformation with characteristics of unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4148181000052116	familjär lambdoideasynostos	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)