cockayne syndrome

Preferred Label : cockayne syndrome;

MeSH definition : A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms.;

MeSH synonym : syndrome, cockayne; syndrome, progeria-like; progeria like syndrome; Progeria-Like Syndromes; progeria-like syndrome; progeroid nanism; Dwarfism-Retinal Atrophy-Deafness syndrome;

CISMeF synonym : Cockayne's syndrome;

MeSH hyponym : cockayne syndrome, type III; cockayne syndrome, type I; cockayne syndrome, type II; Type II Cockayne Syndrome; Group B Cockayne Syndrome; Type B Cockayne Syndrome; Cockayne Syndrome, Group B; Cockayne Syndrome, Type B; Cockayne Syndrome Type C; Type III Cockayne Syndrome; Cockayne Syndrome, Type C; Group C Cockayne Syndrome; Type C Cockayne Syndrome; Cockayne Syndrome Type 3; Cockayne Syndrome, Group C; Type I Cockayne Syndrome; Group A Cockayne Syndrome; Type A Cockayne Syndrome; Cockayne Syndrome, Group A; Cockayne Syndrome, Type A;

Wikipedia link : https://en.wikipedia.org/wiki/Cockayne syndrome;

Details

Origin ID

D003057;

UMLS CUI

C0009207;

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)
- Cockayne syndrome B [DO Concept]
- Cockayne syndrome b [OMIM Phenotype]
- Cockayne syndrome type 2 [ICD-11 More detail]
- Cockayne syndrome type 2 [ORDO Disease]
- Cockayne syndrome type 3 [ICD-11 More detail]
- Cockayne syndrome type 3 [ORDO Disease]
- Cockayne syndrome type 3 (disorder) [SNOMED CT concept]
- Cockayne syndrome, type iii [OMIM Phenotype]
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category]
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category (who)]
- ERCC excision repair 5, endonuclease [ORDO Gene]
- ERCC excision repair 5, endonuclease [HGNC gene]
- ERCC5 wt Allele [NCIt concept]
- progeria syndrome [SNOMED Notion]
Currated CISMeF NLP mapping
- Cockayne Syndrome [NCIt concept]
- Cockayne Syndrome [Radlex concept]
- Cockayne syndrome [PASCAL descriptor]
- Cockayne syndrome [DO Concept]
- Cockayne syndrome [Disease (Nov.)]
- Cockayne syndrome [ICD-11 More detail]
- Cockayne syndrome [ORDO Disease]
- Cockayne syndrome (disorder) [SNOMED CT concept]
- Cockayne syndrome A [DO Concept]
- Cockayne syndrome a [OMIM Phenotype]
- Cockayne syndrome type 1 [ICD-11 More detail]
- Cockayne syndrome type 1 [ORDO Disease]
- Cockayne syndrome type 1 (disorder) [SNOMED CT concept]
- Cockayne's syndrome [MedDRA Preferred Term]
- cockayne syndrome [SNOMED Notion]
DO Cross reference
- Cockayne syndrome [DO Concept]
False automatic mappings
- Hutchinson-Gilford syndrome (disorder) [SNOMED CT concept]
Has phenotype(s) (HPO)
- Abnormal myelination [HPO term]
- Disturbed visual and brainstem auditory evoked responses indicative of CNS demyelination [HPO term]
- Dwarfism [HPO term]
- Large hands and feet [HPO term]
- Salt and pepper retinal pigmentation [HPO term]
Indexing information
- Ckn1 protein, mouse [MeSH Supplementary Concept]
- ERCC6 protein, human [MeSH Supplementary Concept]
- ERCC8 protein, human [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Dentocutaneous disease with cataract [ORDO Disease]
- Ectodermal malformation syndrome associated with ocular features [ORDO Disease]
- Genetic neurodegenerative disease [ORDO Disease]
- Polymalformative genetic syndrome with increased risk of developing cancer [ORDO Disease]
- Progeroid syndrome [ORDO Disease]
- Rare developmental defect with skin/mucosae involvement [ORDO Disease]
- Rare genetic syndromic intellectual disability [ORDO Disease]
- Rare neurodegenerative disease [ORDO Disease]
- Rare syndromic intellectual disability [ORDO Disease]
- Syndromic genetic deafness [ORDO Disease]
- Syndromic rod-cone dystrophy [ORDO Disease]
ORDO relation(s)
- Cockayne syndrome [ORDO Disease]
Record concept(s)
- cockayne syndrome [MeSH concept]
- cockayne syndrome, type I [MeSH concept]
- cockayne syndrome, type II [MeSH concept]
- cockayne syndrome, type III [MeSH concept]
Related MeSH Supplementary Concept(s)
- XFE progeroid syndrome [MeSH Supplementary Concept]
- Xeroderma Pigmentosum B-Cockayne Syndrome [MeSH Supplementary Concept]
- Xeroderma Pigmentosum, Type G-Cockayne Syndrome [MeSH Supplementary Concept]
- cerebrooculofacioskeletal syndrome 1 [MeSH Supplementary Concept]
- cerebrooculofacioskeletal syndrome 3 [MeSH Supplementary Concept]
See also
- intellectual disability [MeSH Descriptor]
- progeria [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cockayne Syndrome [Radlex concept]
- Cockayne Syndrome [NCIt concept]
- Cockayne syndrome [ORDO Disease]
- Cockayne syndrome [DO Concept]
- Cockayne syndrome (disorder) [SNOMED CT concept]
- Cockayne's syndrome [MedDRA Preferred Term]
- Neill-Dingwall syndrome [MedDRA LLT]
- cockayne syndrome [SNOMED Notion]
Validated automatic mappings to BTNT
- Cockayne Syndrome Type A [NCIt concept]
- Cockayne Syndrome Type B [NCIt concept]
- Cockayne syndrome type 1 [ORDO Disease]
- Cockayne syndrome type 2 [ORDO Disease]
- Cockayne syndrome type 3 [ORDO Disease]
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category]
Validated automatic mappings to NTBT
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category (who)]

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