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783198006: Hereditary sensory and autonomic neuropathy due to tectonin beta-propeller repeat containing 2 mutation (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3758051015 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3758052010 Hereditary sensory and autonomic neuropathy due to tectonin beta-propeller repeat containing 2 mutation (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3758053017 Hereditary sensory and autonomic neuropathy due to tectonin beta-propeller repeat containing 2 mutation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3758054011 Autosomal recessive spastic paraplegia type 49 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3758057016 Hereditary sensory and autonomic neuropathy due to TECPR2 (tectonin beta-propeller repeat containing 2) mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3758055012 A rare genetic peripheral neuropathy with characteristics of early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face. Caused by homozygous mutation in the TECPR2 gene on chromosome 14q32. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3758056013 A rare genetic peripheral neuropathy with characteristics of early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastrooesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face. Caused by homozygous mutation in the TECPR2 gene on chromosome 14q32. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4350561000052114 ärftlig sensorisk och autonom neuropati orsakad av TECPR2-mutation sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation Is a Hereditary sensory and autonomic neuropathy true Inferred relationship Some
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation Occurrence Congenital false Inferred relationship Some 2
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation Is a Complicated hereditary spastic paraplegia true Inferred relationship Some
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation Occurrence Congenital false Inferred relationship Some 1
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation Finding site Spinal cord structure true Inferred relationship Some 1
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation Finding site Nerve structure true Inferred relationship Some 3
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation Associated morphology degeneration false Inferred relationship Some 1
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation Finding site Autonomic nervous system structure true Inferred relationship Some 5
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation Finding site Lower limb structure false Inferred relationship Some 2
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation Finding site Peripheral nervous system structure true Inferred relationship Some 4
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Some 1
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation Clinical course Progressive (qualifier value) true Inferred relationship Some 6
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation Interprets Movement true Inferred relationship Some 9
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation Finding site Structure of right lower limb (body structure) true Inferred relationship Some 2
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation Finding site Structure of left lower limb (body structure) true Inferred relationship Some 8
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation Interprets Movement observable true Inferred relationship Some 7
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation Has interpretation Absent true Inferred relationship Some 7

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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