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95477007: congenitale degeneratie van zenuwstelsel (aandoening)

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

\Disorder of foetus and/or newborn\Congenital disease (disorder)\...

\Congenital neurological disorder (disorder)\Congenital anomaly of nervous system\Congenital degeneration of nervous system

\Congenital malformation\Congenital anomaly of nervous system\Congenital degeneration of nervous system

\Degenerative disorder\Congenital degeneration of nervous system

\Disorder of body system\Disorder of nervous system (disorder)\Congenital neurological disorder (disorder)\Congenital anomaly of nervous system\Congenital degeneration of nervous system

\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital degeneration of nervous system

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
Congenital degeneration of nervous system	Is a	Congenital anomaly of nervous system	true	Inferred relationship	Some
Congenital degeneration of nervous system	Occurrence	Congenital	false	Inferred relationship	Some
Congenital degeneration of nervous system	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1
Congenital degeneration of nervous system	Associated morphology	Congenital degeneration	false	Inferred relationship	Some	1
Congenital degeneration of nervous system	Associated morphology	Congenital degeneration	false	Inferred relationship	Some	1
Congenital degeneration of nervous system	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	1
Congenital degeneration of nervous system	Is a	Degenerative disorder	true	Inferred relationship	Some
Congenital degeneration of nervous system	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	2
Congenital degeneration of nervous system	Occurrence	Congenital	false	Inferred relationship	Some	3
Congenital degeneration of nervous system	Associated morphology	degeneratie (afwijkende morfologie)	false	Inferred relationship	Some	3
Congenital degeneration of nervous system	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	3
Congenital degeneration of nervous system	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital degeneration of nervous system	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	2
Congenital degeneration of nervous system	Associated morphology	degeneratie (afwijkende morfologie)	false	Inferred relationship	Some	1
Congenital degeneration of nervous system	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital degeneration of nervous system	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital degeneration of nervous system	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital chorioretinal degeneration	Is a	False	Congenital degeneration of nervous system	Inferred relationship	Some
Aicardi's syndrome	Is a	False	Congenital degeneration of nervous system	Inferred relationship	Some
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder)	Is a	True	Congenital degeneration of nervous system	Inferred relationship	Some
Spinocerebellar ataxia dysmorphism syndrome	Is a	True	Congenital degeneration of nervous system	Inferred relationship	Some
Hypotonia, speech impairment, severe cognitive delay syndrome (disorder)	Is a	True	Congenital degeneration of nervous system	Inferred relationship	Some
Pelizaeus-Merzbacher disease, connatal variant (disorder)	Is a	True	Congenital degeneration of nervous system	Inferred relationship	Some
Craniosynostosis and intracranial calcification syndrome (disorder)	Is a	True	Congenital degeneration of nervous system	Inferred relationship	Some
Severe X-linked intellectual disability Gustavson type (disorder)	Is a	True	Congenital degeneration of nervous system	Inferred relationship	Some
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Is a	True	Congenital degeneration of nervous system	Inferred relationship	Some
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	Is a	True	Congenital degeneration of nervous system	Inferred relationship	Some
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Is a	True	Congenital degeneration of nervous system	Inferred relationship	Some
Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)	Is a	True	Congenital degeneration of nervous system	Inferred relationship	Some
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Is a	False	Congenital degeneration of nervous system	Inferred relationship	Some
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)	Is a	True	Congenital degeneration of nervous system	Inferred relationship	Some
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Is a	True	Congenital degeneration of nervous system	Inferred relationship	Some
Neuronal ceroid lipofuscinosis 8	Is a	True	Congenital degeneration of nervous system	Inferred relationship	Some
Pelizaeus-Merzbacher disease null syndrome	Is a	True	Congenital degeneration of nervous system	Inferred relationship	Some
Pelizaeus-Merzbacher disease in female carrier	Is a	True	Congenital degeneration of nervous system	Inferred relationship	Some
PCNA-related progressive neurodegenerative photosensitivity syndrome	Is a	True	Congenital degeneration of nervous system	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
158152012	Congenital degeneration of nervous system	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
158153019	Congenital degeneration of nervous system, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
158154013	Congenital neurological degeneration, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
158155014	Congenital neurological degeneration	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
839638015	Congenital degeneration of nervous system (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7572191000146115	congenitale degeneratie van zenuwstelsel (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7572201000146118	congenitale degeneratie van zenuwstelsel	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)