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73663008: neurologische afwijkingen bij xeroderma pigmentosum (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Disorder of central nervous system due to xeroderma pigmentosum

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Disorder of central nervous system due to xeroderma pigmentosum
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Disorder of central nervous system due to xeroderma pigmentosum

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Disorder of central nervous system due to xeroderma pigmentosum	Is a	Xeroderma pigmentosum	false	Inferred relationship	Some
Disorder of central nervous system due to xeroderma pigmentosum	Is a	Congenital anomaly of head	false	Inferred relationship	Some
Disorder of central nervous system due to xeroderma pigmentosum	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Disorder of central nervous system due to xeroderma pigmentosum	Is a	Disorder of skin AND/OR subcutaneous tissue of head (disorder)	false	Inferred relationship	Some
Disorder of central nervous system due to xeroderma pigmentosum	Is a	mentale retardatie	false	Inferred relationship	Some
Disorder of central nervous system due to xeroderma pigmentosum	Finding site	Skin structure	false	Inferred relationship	Some	2
Disorder of central nervous system due to xeroderma pigmentosum	Finding site	Skin structure	false	Inferred relationship	Some	2
Disorder of central nervous system due to xeroderma pigmentosum	Associated morphology	Pigment deposition	false	Inferred relationship	Some	2
Disorder of central nervous system due to xeroderma pigmentosum	Occurrence	Congenital	false	Inferred relationship	Some
Disorder of central nervous system due to xeroderma pigmentosum	Finding site	Brain structure	false	Inferred relationship	Some
Disorder of central nervous system due to xeroderma pigmentosum	Associated morphology	Atrophy	false	Inferred relationship	Some	4
Disorder of central nervous system due to xeroderma pigmentosum	Associated morphology	degeneratie (afwijkende morfologie)	false	Inferred relationship	Some	2
Disorder of central nervous system due to xeroderma pigmentosum	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Disorder of central nervous system due to xeroderma pigmentosum	Finding site	Skin structure	false	Inferred relationship	Some	1
Disorder of central nervous system due to xeroderma pigmentosum	Finding site	Skin structure	false	Inferred relationship	Some	1
Disorder of central nervous system due to xeroderma pigmentosum	Finding site	Skin structure	false	Inferred relationship	Some	2
Disorder of central nervous system due to xeroderma pigmentosum	Has definitional manifestation	Abnormal keratinization	false	Inferred relationship	Some
Disorder of central nervous system due to xeroderma pigmentosum	Associated morphology	Papulovesicular rash	false	Inferred relationship	Some	3
Disorder of central nervous system due to xeroderma pigmentosum	Finding site	Skin structure	false	Inferred relationship	Some	2
Disorder of central nervous system due to xeroderma pigmentosum	Finding site	Skin structure	false	Inferred relationship	Some	1
Disorder of central nervous system due to xeroderma pigmentosum	Finding site	Skin structure	false	Inferred relationship	Some	1
Disorder of central nervous system due to xeroderma pigmentosum	Finding site	Skin structure	false	Inferred relationship	Some	3
Disorder of central nervous system due to xeroderma pigmentosum	Finding site	Skin structure	false	Inferred relationship	Some	4
Disorder of central nervous system due to xeroderma pigmentosum	Is a	Disorder of the central nervous system (disorder)	false	Inferred relationship	Some
Disorder of central nervous system due to xeroderma pigmentosum	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some
Disorder of central nervous system due to xeroderma pigmentosum	Due to	Xeroderma pigmentosum	true	Inferred relationship	Some	1
Disorder of central nervous system due to xeroderma pigmentosum	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa	Is a	False	Disorder of central nervous system due to xeroderma pigmentosum	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
122320010	Neurologic xeroderma pigmentosum	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2548038016	Disorder of central nervous system due to xeroderma pigmentosum	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5248010015	Disorder of central nervous system due to xeroderma pigmentosum (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6761031000146119	neurologische afwijkingen bij xeroderma pigmentosum	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6761041000146110	neurologische afwijkingen bij xeroderma pigmentosum (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)