hereditary sensory and autonomic neuropathies

Preferred Label : hereditary sensory and autonomic neuropathies;

MeSH definition : A group of inherited disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and clinically by loss of sensation and autonomic dysfunction. There are five subtypes. Type I features autosomal dominant inheritance and distal sensory involvement. Type II is characterized by autosomal inheritance and distal and proximal sensory loss. Type III is DYSAUTONOMIA, FAMILIAL. Type IV features insensitivity to pain, heat intolerance, and mental deficiency. Type V is characterized by a selective loss of pain with intact light touch and vibratory sensation. (From Joynt, Clinical Neurology, 1995, Ch51, pp142-4);

MeSH synonym : neuropathies, hereditary sensory and autonomic; hsan (hereditary sensory autonomic neuropathy); sensory and autonomic neuropathies, hereditary; hsan; hsans (hereditary sensory autonomic neuropathy);

CISMeF synonym : hsan type iis; is, hsan type; iis, hsan type; type is, hsan; is, hsn type; type ii, hsan; hsn type is; type iis, hsn; type ii, hsn; type iis, hsan; type is, hsn; hsan type is; iis, hsn type; type V, HSAN;

MeSH hyponym : type acroosteolysis, giaccai; hereditary sensory and autonomic neuropathy type II; sensory neuropathy, hereditary; hereditary sensory neuropathy type I; hereditary sensory radicular neuropathy; hereditary sensory and autonomic neuropathy type V; HSAN type IV; Hereditary Sensory Autonomic Neuropathy, Type 5; Neuropathy, Hereditary Sensory And Autonomic, Type V; HSAN5; HSAN 5; Hereditary Sensory and Autonomic Neuropathy, Type 5; HSAN Type V; HSAN V; Hereditary Sensory and Autonomic Neuropathy Type I; Hereditary Sensory Autonomic Neuropathy, Type 1; Neuropathy Hereditary Sensory and Autonomic Type 1; Hereditary Sensory Neuropathy Type 1; HSAN 1; Neuropathy Hereditary Sensory Radicular, Autosomal Dominant; Neuropathy, Hereditary Sensory And Autonomic, Type I; Neuropathy, Hereditary Sensory, Type I; Neuropathy, Hereditary Sensory Radicular, Autosomal Dominant; HSAN I; Hereditary Sensory Neuropathy Type Ia; Hereditary Sensory and Autonomic Neuropathy Type 1; HSAN Type I; Type I, HSAN; HSN Type I; Type I, HSN; Type IV, HSAN; Pain Insensitivity with Anhidrosis, Congenital; Congenital Insensitivity to Pain with Anhidrosis; Hereditary Sensory Autonomic Neuropathy, Type 4; HSAN 4; Insensitivity to Pain, Congenital, with Anhidrosis; Hereditary Sensory and Autonomic Neuropathy 4; Neuropathy, Congenital Sensory, with Anhidrosis; Familial Dysautonomia, Type 2; HSAN IV; Familial Dysautonomia, Type II; Hereditary Sensory And Autonomic Neuropathy IV; Hereditary Sensory and Autonomic Neuropathy, Type 4; Hereditary Sensory and Autonomic Neuropathy Type IV; Insensitivity to Pain with Anhidrosis, Congenital; Hereditary Sensory Neuropathies; Hereditary Sensory Neuropathy; Neuropathies, Hereditary Sensory; Neuropathy, Hereditary Sensory; Sensory Neuropathies, Hereditary; Neurogenic Acroosteolysis; Acroosteolysis, Neurogenic; Acroosteolyses, Neurogenic; Neurogenic Acroosteolyses; Neuropathy, Congenital Sensory; Congenital Sensory Neuropathies; Congenital Sensory Neuropathy; Neuropathies, Congenital Sensory; Sensory Neuropathies, Congenital; Sensory Neuropathy, Congenital; HSN Type II; HSN Type IIs; Hereditary Sensory Autonomic Neuropathy, Type 2; Giaccai Type Acroosteolysis; Hereditary Sensory Radicular Neuropathy, Recessive Form; HSAN2; Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive; Acroosteolysis, Giaccai Type; Neuropathy, Progressive Sensory, Of Children; HSANII; HSAN Type II; Hereditary Sensory and Autonomic Neuropathy Type 2;

MeSH annotation : do not confuse with HEREDITARY SENSORY AND MOTOR NEUROPATHY; note entry terms for HSAN types: HSAN TYPE III see DYSAUTONOMIA, FAMILIAL is also available;

Wikipedia link : https://en.wikipedia.org/wiki/Congenital sensory neuropathy;

Details

Origin ID

D009477;

UMLS CUI

C0027889;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Autosomal dominant sensory neuropathy (disorder) [SNOMED CT concept]
- Congenital sensory neuropathy with selective loss of small myelinated fibers (disorder) [SNOMED CT concept]
- Grade 1 Cranial Nerve I Neuropathy, CTCAE [NCIt concept]
- Grade 4 Cranial Nerve I Neuropathy, CTCAE [NCIt concept]
- Grade 5 Cranial Nerve I Neuropathy, CTCAE [NCIt concept]
- Hereditary insensitivity to pain with anhidrosis (disorder) [SNOMED CT concept]
- Hereditary sensory and autonomic neuropathy [OMIM phenotypic series]
- Hereditary sensory and autonomic neuropathy type 2 [ORDO Disease]
- Hereditary sensory and autonomic neuropathy type 5 [ORDO Disease]
- Hereditary sensory and autonomic neuropathy type I (disorder) [SNOMED CT concept]
- Hereditary sensory and autonomic neuropathy type II [ICD-11 More detail]
- Hereditary sensory and autonomic neuropathy type II (disorder) [SNOMED CT concept]
- Hereditary sensory and autonomic neuropathy with deafness and global delay (disorder) [SNOMED CT concept]
- Hereditary sensory neuropathy [ICD-9 code]
- Insensitivity to pain, congenital, with anhidrosis [OMIM Phenotype]
- NGF wt Allele [NCIt concept]
- Neuropathy, Hereditary Sensory and Autonomic, Type I [NCIt concept]
- Neuropathy, Hereditary Sensory and Autonomic, Type IV [NCIt concept]
- Neuropathy, Hereditary Sensory and Autonomic, Type V [NCIt concept]
- Neuropathy, hereditary sensory and autonomic, type III [OMIM Phenotype]
- Neuropathy, hereditary sensory and autonomic, type V [OMIM Phenotype]
- Neuropathy, hereditary sensory and autonomic, type ia [OMIM Phenotype]
- Neuropathy, hereditary sensory and autonomic, type iia [OMIM Phenotype]
- Serine/Threonine-Protein Kinase WNK1 [NCIt concept]
- WNK lysine deficient protein kinase 1 [ORDO Gene]
- WNK1 wt Allele [NCIt concept]
- hereditary sensory neuropathy type 4 [DO Concept]
Currated CISMeF NLP mapping
- Charcot-Marie-Tooth Disease [NCIt concept]
- Charcot-Marie-Tooth disease [DO Concept]
- Charcot-Marie-Tooth disease [Radlex concept]
- Charcot-Marie-Tooth disease [MedDRA LLT]
- Hereditary motor and sensory neuropathy [ICD-10 Sub-category]
- Hereditary motor and sensory neuropathy (disorder) [SNOMED CT concept]
- Hereditary sensory and autonomic neuropathy [ORDO Disease]
- Hereditary sensory and autonomic neuropathy (disorder) [SNOMED CT concept]
- Hereditary sensory neuropathy [MedDRA LLT]
- Hereditary sensory neuropathy (disorder) [SNOMED CT concept]
- Hereditary sensory or autonomic neuropathy [ICD-11 Category]
- Sensory neuropathy hereditary [MedDRA Preferred Term]
- charcot-marie-tooth disease [MedlinePlus Topic]
- hereditary sensory neuropathy, nos [SNOMED Notion]
DO Cross reference
- hereditary sensory and autonomic neuropathy type 1 [DO Concept]
- hereditary sensory and autonomic neuropathy type 2 [DO Concept]
- hereditary sensory and autonomic neuropathy type 5 [DO Concept]
- hereditary sensory neuropathy [DO Concept]
- hereditary sensory neuropathy type 4 [DO Concept]
- sensory peripheral neuropathy [DO Concept]
False automatic mappings
- PANSS - Difficulty in Abstract Thinking [NCIt concept]
Manual BTNT mappings - CISMeF
- Autosomal dominant hereditary sensory and autonomic neuropathy [ORDO Disease]
- X-linked hereditary sensory and autonomic neuropathy with deafness [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Autosomal recessive hereditary sensory and autonomic neuropathy [ORDO Disease]
- Genetic peripheral neuropathy [ORDO Disease]
- Rare peripheral neuropathy [ORDO Disease]
Ne pas confondre avec
- hereditary sensory and motor neuropathy [MeSH Descriptor]
ORDO relation(s)
- Congenital insensitivity to pain-anosmia-neuropathic arthropathy [ORDO Disease]
- Hereditary sensory and autonomic neuropathy [ORDO Disease]
Record concept(s)
- HSAN type IV [MeSH concept]
- hereditary sensory and autonomic neuropathies [MeSH concept]
- hereditary sensory and autonomic neuropathy type II [MeSH concept]
- hereditary sensory and autonomic neuropathy type V [MeSH concept]
- hereditary sensory neuropathy type I [MeSH concept]
- hereditary sensory radicular neuropathy [MeSH concept]
- sensory neuropathy, hereditary [MeSH concept]
Related MeSH Supplementary Concept(s)
- cervical hypertrichosis neuropathy [MeSH Supplementary Concept]
- hamanishi ueba tsuji syndrome [MeSH Supplementary Concept]
- hereditary sensory and autonomic neuropathy type ie [MeSH Supplementary Concept]
- neuropathy, hereditary sensory and autonomic, Adult-Onset, with anosmia [MeSH Supplementary Concept]
- neuropathy, hereditary sensory and autonomic, type I, with cough and gastroesophageal reflux [MeSH Supplementary Concept]
- neuropathy, hereditary sensory and autonomic, type IIB [MeSH Supplementary Concept]
- neuropathy, hereditary sensory, X-Linked [MeSH Supplementary Concept]
See also
- pain insensitivity, congenital [MeSH Descriptor]
See also (suggested by CISMeF)
- hereditary sensory and motor neuropathy [MeSH Descriptor]
See also inter- (CISMeF)
- congenital sensory neuropathy [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary sensory and autonomic neuropathy [ORDO Disease]
- Hereditary sensory and autonomic neuropathy (disorder) [SNOMED CT concept]
Validated automatic mappings to BTNT
- Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy [ORDO Disease]
- Congenital sensory neuropathy with selective loss of small myelinated fibers (disorder) [SNOMED CT concept]
- Hereditary sensory and autonomic neuropathy type 1 [ORDO Disease]
- Hereditary sensory and autonomic neuropathy type 4 [ORDO Disease]
- Hereditary sensory and autonomic neuropathy type I [ICD-11 Subcategory]
- Hereditary sensory and autonomic neuropathy type IV [ICD-11 Subcategory]
- Hereditary sensory and autonomic neuropathy type V [ICD-11 Subcategory]
- Thevenard hereditary acrodystrophic neuropathy [PASCAL descriptor]
- congenital insensitivity to pain with anhidrosis [Disease (Nov.)]
- hereditary sensory and autonomic neuropathy type 1 [DO Concept]
- hereditary sensory and autonomic neuropathy type 2 [DO Concept]
- hereditary sensory and autonomic neuropathy type 5 [DO Concept]
- hereditary sensory neuropathy type 1 [Disease (Nov.)]
Validated automatic mappings to NTBT
- hereditary sensory neuropathy [DO Concept]

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