230552007: X-gebonden hereditaire motorische en sensorische neuropathie (aandoening)

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

\Genetic disease\Hereditary disease\...

\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\X-linked hereditary motor and sensory neuropathy

\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked hereditary motor and sensory neuropathy

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital neurological disorder (disorder)\X-linked hereditary motor and sensory neuropathy

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\X-linked hereditary motor and sensory neuropathy
\Disorder of body system\Disorder of nervous system (disorder)\Congenital neurological disorder (disorder)\X-linked hereditary motor and sensory neuropathy
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\X-linked hereditary motor and sensory neuropathy
\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\X-linked hereditary motor and sensory neuropathy

Status: current, Not 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
X-linked hereditary motor and sensory neuropathy	Is a	Hereditary motor and sensory neuropathy	false	Inferred relationship	Some
X-linked hereditary motor and sensory neuropathy	Finding site	Peripheral nervous system structure	false	Inferred relationship	Some
X-linked hereditary motor and sensory neuropathy	Finding site	Nerve structure	false	Inferred relationship	Some
X-linked hereditary motor and sensory neuropathy	Is a	Neuropathy	false	Inferred relationship	Some
X-linked hereditary motor and sensory neuropathy	Is a	Hereditary motor and sensory neuropathy (disorder)	true	Inferred relationship	Some
X-linked hereditary motor and sensory neuropathy	Is a	Neuropathy (disorder)	false	Inferred relationship	Some
X-linked hereditary motor and sensory neuropathy	Is a	Congenital disease (disorder)	false	Inferred relationship	Some
X-linked hereditary motor and sensory neuropathy	Is a	X-linked hereditary disease	true	Inferred relationship	Some
X-linked hereditary motor and sensory neuropathy	Occurrence	Congenital	true	Inferred relationship	Some	1
X-linked hereditary motor and sensory neuropathy	Finding site	Peripheral nervous system structure	true	Inferred relationship	Some	1
X-linked hereditary motor and sensory neuropathy	Is a	Congenital neurological disorder (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
X-linked Charcot-Marie-Tooth disease type 6 (disorder)	Is a	True	X-linked hereditary motor and sensory neuropathy	Inferred relationship	Some
X-linked Charcot-Marie-Tooth disease type 4	Is a	True	X-linked hereditary motor and sensory neuropathy	Inferred relationship	Some
X-linked Charcot-Marie-Tooth disease type 1	Is a	True	X-linked hereditary motor and sensory neuropathy	Inferred relationship	Some
X-linked Charcot-Marie-Tooth disease type 2 (disorder)	Is a	True	X-linked hereditary motor and sensory neuropathy	Inferred relationship	Some
X-linked Charcot-Marie-Tooth disease type 3	Is a	True	X-linked hereditary motor and sensory neuropathy	Inferred relationship	Some
X-linked Charcot-Marie-Tooth disease type 5 (disorder)	Is a	True	X-linked hereditary motor and sensory neuropathy	Inferred relationship	Some

Reference Sets

Dutch rare neuromuscular disorders simple reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
345458012	X-linked hereditary motor and sensory neuropathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
618376017	X-linked hereditary motor and sensory neuropathy (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3642105016	X-linked Charcot-Marie-Tooth disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
13921000146119	X-gebonden hereditaire motorische en sensorische neuropathie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
731051000146119	X-gebonden hereditaire motorische en sensorische neuropathie (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
731061000146116	X-HMSN	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
731071000146110	X-gebonden ziekte van Charcot-Marie-Tooth	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
731081000146112	X-CMT	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)