1279831004: congenitale pijnongevoeligheid, anosmie en artropathie bij aandoening van zenuwstelsel (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Functional finding\Finding of sensory function\...
• \Disorder of sensory function (disorder)\Disorder of smell (disorder)\Congenital anosmia\Congenital insensitivity to pain, anosmia, neuropathic arthropathy
• \Finding of sense of smell\Disorder of smell (disorder)\Congenital anosmia\Congenital insensitivity to pain, anosmia, neuropathic arthropathy
• \Finding of sense of smell\Loss of sense of smell\Congenital anosmia\Congenital insensitivity to pain, anosmia, neuropathic arthropathy
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Arthropathy associated with another disorder\Arthropathy associated with a neurological disorder\Congenital insensitivity to pain, anosmia, neuropathic arthropathy
• \Musculoskeletal finding\Joint finding\Finding of sensation of joint\Congenital insensitivity to pain, anosmia, neuropathic arthropathy
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Congenital insensitivity to pain, anosmia, neuropathic arthropathy
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Arthropathy associated with another disorder\Arthropathy associated with a neurological disorder\Congenital insensitivity to pain, anosmia, neuropathic arthropathy
• \Neurological finding\Sensory nervous system finding\Finding of sensation by site (finding)\...
• \Sensory disorder of smell and/or taste\Disorder of smell (disorder)\Congenital anosmia\Congenital insensitivity to pain, anosmia, neuropathic arthropathy
• \Finding of sensation of joint\Congenital insensitivity to pain, anosmia, neuropathic arthropathy
• \Finding of sense of smell\Disorder of smell (disorder)\Congenital anosmia\Congenital insensitivity to pain, anosmia, neuropathic arthropathy
• \Finding of sense of smell\Loss of sense of smell\Congenital anosmia\Congenital insensitivity to pain, anosmia, neuropathic arthropathy
• \Disease\Disorder of joint region\Arthropathy (disorder)\Arthropathy associated with another disorder\Arthropathy associated with a neurological disorder\Congenital insensitivity to pain, anosmia, neuropathic arthropathy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited autonomic nervous system disorder (disorder)\Hereditary sensory and autonomic neuropathy\Congenital insensitivity to pain, anosmia, neuropathic arthropathy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy\Congenital insensitivity to pain, anosmia, neuropathic arthropathy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Congenital insensitivity to pain, anosmia, neuropathic arthropathy
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital insensitivity to pain, anosmia, neuropathic arthropathy
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital insensitivity to pain, anosmia, neuropathic arthropathy
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital neurological disorder (disorder)\Congenital anomaly of nervous system\Congenital anosmia\Congenital insensitivity to pain, anosmia, neuropathic arthropathy
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anosmia\Congenital insensitivity to pain, anosmia, neuropathic arthropathy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited autonomic nervous system disorder (disorder)\Hereditary sensory and autonomic neuropathy\Congenital insensitivity to pain, anosmia, neuropathic arthropathy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy\Congenital insensitivity to pain, anosmia, neuropathic arthropathy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Congenital insensitivity to pain, anosmia, neuropathic arthropathy
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of sensory function (disorder)\Disorder of smell (disorder)\Congenital anosmia\Congenital insensitivity to pain, anosmia, neuropathic arthropathy
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital neurological disorder (disorder)\Congenital anomaly of nervous system\Congenital anosmia\Congenital insensitivity to pain, anosmia, neuropathic arthropathy
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Hereditary sensory and autonomic neuropathy\Congenital insensitivity to pain, anosmia, neuropathic arthropathy
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited autonomic nervous system disorder (disorder)\Hereditary sensory and autonomic neuropathy\Congenital insensitivity to pain, anosmia, neuropathic arthropathy
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy\Congenital insensitivity to pain, anosmia, neuropathic arthropathy
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of olfactory system\Disorder of smell (disorder)\Congenital anosmia\Congenital insensitivity to pain, anosmia, neuropathic arthropathy
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Sensory disorder\Sensory disorder of smell and/or taste\Disorder of smell (disorder)\Congenital anosmia\Congenital insensitivity to pain, anosmia, neuropathic arthropathy
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary sensory and autonomic neuropathy\Congenital insensitivity to pain, anosmia, neuropathic arthropathy
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of autonomic nervous system\Inherited autonomic nervous system disorder (disorder)\Hereditary sensory and autonomic neuropathy\Congenital insensitivity to pain, anosmia, neuropathic arthropathy
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Congenital insensitivity to pain, anosmia, neuropathic arthropathy
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Arthropathy associated with another disorder\Arthropathy associated with a neurological disorder\Congenital insensitivity to pain, anosmia, neuropathic arthropathy
• \Disease\Developmental disorder\Developmental hereditary disorder\Congenital insensitivity to pain, anosmia, neuropathic arthropathy
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anosmia\Congenital insensitivity to pain, anosmia, neuropathic arthropathy

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2023. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5234014015	Sodium voltage-gated channel alpha subunit 9-related congenital insensitivity to pain	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5234015019	Congenital insensitivity to pain, anosmia, neuropathic arthropathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5234016018	SCN9A-related congenital insensitivity to pain	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5234017010	Congenital insensitivity to pain, anosmia, neuropathic arthropathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
14339141000146110	congenitale pijnongevoeligheid, anosmie en artropathie bij aandoening van zenuwstelsel (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14339151000146113	congenitale ongevoeligheid voor pijn, anosmie en neuropathische artropathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14339161000146111	congenitale pijnongevoeligheid, anosmie en artropathie bij aandoening van zenuwstelsel	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
5234018017	A rare genetic peripheral neuropathy with characteristics of complete congenital insensitivity to painful stimuli commonly associated with neuropathic arthropathy. In addition, patients are typically anosmic. Caused by homozygous or compound heterozygous mutations in the SCN9A gene on chromosome 2q24.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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