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Ehlers-Danlos Syndrome (CUI C0013720) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0013720

NCI Thesaurus Code: C34568  (see NCI Thesaurus info)

Semantic Type: Congenital Abnormality

Semantic Type: Disease or Syndrome

NCIt Definition: An inherited connective tissue disorder characterized by loose and fragile skin and joint hypermobility.

GARD Definition: Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders that is caused by abnormalities in the structure, production, and/or processing of collagen. There are 6 major forms of EDS: hypermobility type, classical type, vascular type, kyphoscoliosis type, arthrochalasia type, and dermatosparaxis type. Although other forms of the condition exist, they are extremely rare and are not well-characterized. The signs and symptoms of EDS vary by type and range from mildly loose joints to life-threatening complications. Features shared by most types include joint hypermobility (unusually large range of joint movement) and soft, velvety skin that is highly elastic (stretchy) and bruises easily. Changes (mutations) in a variety of genes may lead to EDS; however, the underlying genetic cause in some families is unknown. Depending on the subtype, EDS may be inherited in an autosomal dominant or an autosomal recessive manner. There is no specific cure for EDS. The treatment and management is focused on preventing serious complications and relieving associated signs and symptoms. - this information is from GARD/ORDR/NCATS.

MEDLINEPLUS Definition: 

Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that weaken connective tissues. Connective tissues are proteins that support skin, bones, blood vessels, and other organs.

EDS usually affects your skin, joints and blood vessel walls. Symptoms include

  • Loose joints
  • Fragile, small blood vessels
  • Abnormal scar formation and wound healing
  • Soft, velvety, stretchy skin that bruises easily

There are several types of EDS. They can range from mild to life-threatening. About 1 in 5,000 people has EDS. There is no cure. Treatment involves managing symptoms, often with medicines and physical therapy. It also includes learning how to protect your joints and prevent injuries.

CSP Definition: group of inherited disorders of the connective tissue; major manifestations include hyperextensible skin and joints, easy bruisability, friability of tissues with bleeding and poor wound healing, calcified subcutaneous spheroids, and pseudotumors.

MSH 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.

Synonyms & Abbreviations: (see Synonym Details)
cutis elastica
Cutis hyperelastica dermatorrhexis
cutis hyperelastica
Cutis hyperplastica
Danlos Disease, Ehlers
Danlos disease
DERMATORRHEXIS WITH DERMATOCHALASIS AND ARTHROCHALASIS
Disease, Ehlers Danlos
Disease, Ehlers-Danlos
Dystrophia mesodermalis congenita
ED syndrome
EDS
Ehler Danlos Syndrome
Ehlers Danlos Disease
EHLERS DANLOS DIS
Ehlers Danlos Syndrome
Ehlers-Danlos Disease
Ehlers-Danlos syndrome (disorder)
Ehlers-Danlos Syndrome [Disease/Finding]
EHLERS-DANLOS SYNDROME
elastic skin
Fibrodysplasia elastica generalisata
Hereditary collagen dysplasia
India rubber skin
Meekeren-Ehlers-Danlos syndrome
Syndrome, Ehlers-Danlos

External Source Codes: 
NCI Thesaurus Code C34568 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AQL BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
Contributing_Source NICHD NCI
CTV3ID XUYUX SNOMEDCT_US
DATE_CREATED 01/28/2002 MEDLINEPLUS
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 1849-3115 CSP
DISEASE_IDENTIFIER_ID 18275 GARD
DISEASE_IDENTIFIER_ID 18276 GARD
DISEASE_IDENTIFIER_ID 18277 GARD
DX 19660101 MSH
EFFECTIVE_TIME 20030731 SNOMEDCT_US
FX D012155 MSH
HAS_GARD_PAGE true GARD
IAN DEFAULT ICD10
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_ACTION Modified GARD
MDA 19990101 MSH
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. NDFRT
MESH_DUI D004535 NDFRT
MESH_NAME Ehlers-Danlos Syndrome NDFRT
MESH_UI M0007138 NDFRT
MMR 20150622 MSH
MN C14.907.454.240 MSH
MN C15.378.463.515.240 MSH
MN C16.131.831.428 MSH
MN C16.320.850.260 MSH
MN C17.300.200.310 MSH
MN C17.800.804.428 MSH
MN C17.800.827.260 MSH
MP_HEALTH_TOPIC_URL https://www.nlm.nih.gov/medlineplus/ehlersdanlossyndrome.html MEDLINEPLUS
MP_OTHER_LANGUAGE_URL Spanish https://www.nlm.nih.gov/medlineplus/spanish/ehlersdanlossyndrome.html MEDLINEPLUS
MP_PRIMARY_INSTITUTE_URL National Institute of Arthritis and Musculoskeletal and Skin Diseases http://www.niams.nih.gov/ MEDLINEPLUS
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Ehlers-Danlos Syndrome NCI
NUI N0000001059 NDFRT
ORDER_NO 28060 ICD10CM
PRIMARY_PATH 10014316$10010763$10028396$10010331$Ehlers-Danlos syndrome$Connective tissue disorders congenital$Musculoskeletal and connective tissue disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/6322/ehlers-danlos-syndrome/resources/1 GARD
RXAUI 3136466 RXNORM
RXAUI 3153309 RXNORM
RXAUI 3153310 RXNORM
RXAUI 3153311 RXNORM
RXAUI 5930802 RXNORM
RXCUI 1022674 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 398114001 NDFRT
SNOMEDID DF-003E3 SNOMEDCT_US
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS Q79.6 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~Q79.6 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS Q79.6 | DESCENDANTS NOT EXHAUSTIVELY MAPPED SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q79.6 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XUYUX SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~DF-003E3 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T013884 MSH
TERMUI T013885 MSH
TERMUI T013886 MSH
TERMUI T841321 MSH
TH GHR (2014) MSH
TH NLM (1966) MSH
TH NLM (1993) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0013720

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