ehlers-danlos syndrome

Preferred Label : ehlers-danlos syndrome;

MeSH definition : A heterogeneous group of autosomally inherited COLLAGEN DISEASES caused by defects in the synthesis or structure of FIBRILLAR COLLAGEN. There are numerous subtypes: classical, hypermobility, vascular, and others. Common clinical features include hyperextensible skin and joints, skin fragility and reduced wound healing capability.;

MeSH synonym : syndrome, ehlers-danlos; cutis elastica; ehlers-danlos disease; disease, ehlers-danlos; ehlers danlos disease; ehlers danlos syndrome; danlos disease, ehlers; disease, ehlers danlos;

CISMeF synonym : Ehlers-Danlos; ehlers-danlos's syndrome;

MeSH hyponym : Ehlers-Danlos syndrome, type IV; Ehlers Danlos Syndrome, Type IV; Ehlers-Danlos Syndrome, Arterial Type; Ehlers-Danlos Syndrome, Ecchymotic Type; Ehlers-Danlos Syndrome, Sack-Barabas Type; Ehlers Danlos Syndrome, Sack-Barabas Type; Ehlers Danlos Syndrome, Sack Barabas Type; Ehlers-Danlos Syndrome, Type IV, Autosomal Dominant; Ehlers Danlos Syndrome Type 4, Autosomal Dominant; Ehlers Danlos Syndrome, Arterial Type; Ehlers Danlos Syndrome, Ecchymotic Type; Ehlers-Danlos Syndrome, Vascular Type; Ehlers Danlos Syndrome, Vascular Type; EDS IV;

Wikipedia link : https://en.wikipedia.org/wiki/Ehlers-danlos;

Details

Origin ID

D004535;

UMLS CUI

C0013720;

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)
- Ehlers-Danlos Syndrome, Type IV [NCIt concept]
- Ehlers-Danlos syndrome [ACR pathology]
- Ehlers-Danlos syndrome [ACR pathology]
- Ehlers-Danlos syndrome [ACR pathology]
- Ehlers-Danlos syndrome [ACR pathology]
- Ehlers-Danlos syndrome, type 4 (disorder) [SNOMED CT concept]
- Ehlers-danlos syndrome, vascular type [OMIM Phenotype]
- Energy Dispersive Spectroscopy [NCIt concept]
- Sedimentation [NCIt concept]
- Spondyloepiphyseal dysplasia congenita group (disorder) [SNOMED CT concept]
- Vascular Ehlers-Danlos syndrome [ORDO Disease]
- Whole Genome Association Study [NCIt concept]
- egg drop syndrome [SNOMED Notion]
- sedimentation [IUPAC Term]
- vascular type Ehlers-Danlos syndrome [DO Concept]
Currated CISMeF NLP mapping
- Ehlers Danlos syndrome [Disease (Nov.)]
- Ehlers Danlos syndrome [PASCAL descriptor]
- Ehlers-Danlos Syndrome [NCIt concept]
- Ehlers-Danlos syndrome [ICD-10 Sub-category]
- Ehlers-Danlos syndrome [DO Concept]
- Ehlers-Danlos syndrome [ICD-11 Subcategory]
- Ehlers-Danlos syndrome [ICD-9 code]
- Ehlers-Danlos syndrome [ICD-10 Sub-category (who)]
- Ehlers-Danlos syndrome [MedDRA Preferred Term]
- Ehlers-Danlos syndrome [ORDO Disease]
- Ehlers-Danlos syndrome (disorder) [SNOMED CT concept]
- Ehlers-danlos syndrome [OMIM phenotypic series]
- ehlers-danlos syndrome [MedlinePlus Topic]
- ehlers-danlos syndrome, nos [SNOMED Notion]
DO Cross reference
- Ehlers-Danlos syndrome [DO Concept]
False automatic mappings
- Data Warehousing [EFMI term]
Indexing information
- FKBP14 protein, human [MeSH Supplementary Concept]
- tenascin X [MeSH Supplementary Concept]
Manual BTNT mappings - CISMeF
- Arthrochalasia Ehlers-Danlos syndrome [ORDO Disease]
- B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome [ORDO Disease]
- Classical Ehlers-Danlos syndrome [ORDO Disease]
- Dermatosparaxis Ehlers-Danlos syndrome [ORDO Disease]
- Ehlers-Danlos syndrome with periventricular heterotopia [ORDO Disease]
- Ehlers-Danlos syndrome, fibronectinemic type [ORDO Disease]
- Hypermobile Ehlers-Danlos syndrome [ORDO Disease]
- Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency [ORDO Disease]
- Periodontal Ehlers-Danlos syndrome [ORDO Disease]
- SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Dermis elastic tissue disorder [ORDO Disease]
- Lens position anomaly [ORDO Disease]
- Rare developmental defect with connective tissue involvement [ORDO Disease]
- Rare developmental defect with skin/mucosae involvement [ORDO Disease]
- Rare vascular disease [ORDO Disease]
- Syndromic epicanthus [ORDO Disease]
MedlinePlus topic(s)
- ehlers-danlos syndrome [MedlinePlus Topic]
ORDO relation(s)
- Ehlers-Danlos syndrome [ORDO Disease]
Record concept(s)
- Ehlers-Danlos syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- Brittle cornea syndrome 1 [MeSH Supplementary Concept]
- EDS VIIB [MeSH Supplementary Concept]
- Ehlers-Danlos Syndrome, musculocontractural type 1 [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome VI phenotype with macrocephaly [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome caused by tenascin-X deficiency [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome type 1 [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome type 2 [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome type 3 [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome type 5 [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome type 6 [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome, Beasley Cohen type [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome, autosomal dominant, type unspecified [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome, cardiac valvular form [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome, progeroid form [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome, type VII, autosomal dominant [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome, type VII, autosomal recessive [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome, type VIII [MeSH Supplementary Concept]
- OI-EDS Combined Syndrome [MeSH Supplementary Concept]
- hernandez Aguirre-Negrete syndrome [MeSH Supplementary Concept]
- joint laxity, familial [MeSH Supplementary Concept]
- occipital horn syndrome [MeSH Supplementary Concept]
- spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like [MeSH Supplementary Concept]
See also
- Loeys-Dietz syndrome [MeSH Descriptor]
- cutis laxa [MeSH Descriptor]
- reticulin [MeSH Descriptor]
See also inter- (CISMeF)
- Family History of Ehlers-Danlos Syndrome [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cutis hyperplastica [MedDRA LLT]
- Ehlers Danlos syndrome [PASCAL descriptor]
- Ehlers Danlos syndrome [Disease (Nov.)]
- Ehlers-Danlos Syndrome [NCIt concept]
- Ehlers-Danlos syndrome [ORDO Disease]
- Ehlers-Danlos syndrome [MedDRA Preferred Term]
- Ehlers-Danlos syndrome [ICD-10 Sub-category]
- Ehlers-Danlos syndrome [ICD-10 Sub-category (who)]
- Ehlers-Danlos syndrome [DO Concept]
- Ehlers-Danlos syndrome [ICD-9 code]
- Ehlers-Danlos syndrome [ICD-11 Subcategory]
- Ehlers-Danlos syndrome (disorder) [SNOMED CT concept]
- ehlers-danlos syndrome [MedlinePlus Topic]
- ehlers-danlos syndrome, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Ehlers Danlos syndrome type IV [Disease (Nov.)]
- Ehlers-Danlos syndrome, vascular type [ICD-11 More detail]

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