60981000146109: aandoening van zintuiglijke functies (aandoening)

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

\Functional finding\Finding of sensory function\Disorder of sensory function (disorder)

\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of sensory function (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2019. Module: SNOMED CT Netherlands NRC maintained module (core metadata concept)

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Disorder of sensory function (disorder)	Interprets	Sensory function	true	Inferred relationship	Some	3
Disorder of sensory function (disorder)	Is a	Disorder of nervous system (disorder)	true	Inferred relationship	Some
Disorder of sensory function (disorder)	Finding site	Structure of special senses organ system	true	Inferred relationship	Some	2
Disorder of sensory function (disorder)	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1
Disorder of sensory function (disorder)	Is a	Finding of sensory function	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Olivopontocerebellar atrophy co-occurrent with sensorineural hearing loss (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Developmental malformation, deafness, dystonia syndrome (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Deafness with malformation of ear and facial palsy syndrome (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Arts syndrome	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Isolated arhinencephaly (disorder)	Is a	False	Disorder of sensory function (disorder)	Inferred relationship	Some
Visual snow syndrome	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Microcephaly with deafness and intellectual disability syndrome (disorder)	Is a	False	Disorder of sensory function (disorder)	Inferred relationship	Some
Neural hearing loss	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Disorder of smell (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Myoclonus, cerebellar ataxia, deafness syndrome	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Congenital cataract, hearing loss, severe developmental delay syndrome (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Chudley McCullough syndrome (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Horner-pupil	Is a	False	Disorder of sensory function (disorder)	Inferred relationship	Some
Sensorineural hearing loss, early graying, essential tremor syndrome (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Spastic paraplegia, nephritis, deafness syndrome (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Congenital trigeminal anesthesia (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Deafness-dystonia-optic neuronopathy syndrome (disorder)	Is a	False	Disorder of sensory function (disorder)	Inferred relationship	Some
Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder)	Is a	False	Disorder of sensory function (disorder)	Inferred relationship	Some
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Gemignani syndrome (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Athabaskan brainstem dysgenesis syndrome (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Spastic ataxia with congenital miosis	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Wildervanck syndrome	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Ataxia with deafness and intellectual disability syndrome (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Hirschsprung disease with deafness and polydactyly syndrome (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Auditory synaptopathy (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Severe X-linked intellectual disability Gustavson type (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Waardenburg Shah syndrome	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Wolfram-like syndrome (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Traumatic anosmia	Is a	False	Disorder of sensory function (disorder)	Inferred relationship	Some
X-linked hereditary sensory and autonomic neuropathy with deafness (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Progressive bulbar palsy with sensorineural deafness (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Wolfram syndrome	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Charcot-Marie-Tooth disease type IE (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
X-linked spinocerebellar ataxia type 3 (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Spastic paraparesis co-occurrent with deafness (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Congenital cataract with ataxia and deafness syndrome (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Combined oxidative phosphorylation defect type 25 (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Autosomal dominant spastic paraplegia type 29 (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Hypogonadism with anosmia	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Auditory neuropathy, optic atrophy syndrome (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
PCNA-related progressive neurodegenerative photosensitivity syndrome	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Duane retraction syndrome with congenital deafness	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Adult-onset progressive leukoencephalopathy, early-onset deafness (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Mitchell syndrome	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)	Is a	True	Disorder of sensory function (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4005931000146110	Disorder of sensory function (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
4005941000146119	Disorder of sensory function	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8618801000146114	aandoening van zintuiglijke functies	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8618811000146111	aandoening van zintuiglijke functies (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)