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Langer-Giedion Syndrome (CUI C0023003) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0023003

NCI Thesaurus Code: C75118  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: A rare, usually sporadic and less frequently familiar syndrome caused by deletions on the long arm of chromosome 8. It is characterized by distinctive facial appearance (sparse hair, pear-shaped nose, and large ears), multiple exostoses, redundant skin, and mental retardation.

GARD Definition: Trichorhinophalangeal syndrome type 2 (TRPS2), also known as Langer-Giedion syndrome, is an extremely rare inherited multisystem disorder.  The condition is characterized by intellectual deficit and numerous other abnormalities including excess folds of skin, multiple bony growths (exostoses), characteristic facial features, and cone-shaped phalangeal epiphyses (the growing ends of the bones in the fingers).  The range and severity of symptoms varies greatly from person to person.  TRPS2 is transmitted in an autosomal dominant manner, but many sporadic cases have been reported. TRPS2 is due to the absence of genetic material (chromosomal deletions) on chromosome 8, which often includes the TRPS1 gene and EXT1 gene. The size of the deletion varies from person to person. - this information is from GARD/ORDR/NCATS.

MSH Definition: Autosomal dominant disorder characterized by cone-shaped epiphyses in the hands and multiple cartilaginous exostoses. INTELLECTUAL DISABILITY and abnormalities of chromosome 8 are often present. The exostoses in this syndrome appear identical to those of hereditary multiple exostoses (EXOSTOSES, HEREDITARY MULTIPLE).

Synonyms & Abbreviations: (see Synonym Details)
Acrodysplasia Vs
Acrodysplasia V
CHROMOSOME 8q24.1 DELETION SYNDROME
Deletion 8q24.1
Giedion Langer Syndrome
Giedion-Langer syndrome
Langer Giedion Syndrome
Langer-Giedion syndrome (disorder)
Langer-Giedion Syndrome [Disease/Finding]
Langer-Giedion syndrome
LGS
Monosomy 8q24.1
Syndrome, Giedion-Langer
Syndrome, Langer-Giedion
Tricho Rhino Phalangeal Syndrome Type II
Tricho-Rhino-Phalangeal Syndrome Type II
Trichorhinophalangeal syndrome II
Trichorhinophalangeal syndrome type 2
Trichorhinophalangeal syndrome type II
Trichorhinophalangeal Syndrome with Exostoses
Trichorhinophalangeal syndrome with exostosis
Trichorhinophalangeal Syndrome, Type II
TRPS 2
TRPS II - Trichorhinophalangeal syndrome II
TRPS2
TRPSE
TRPSII

External Source Codes: 
NCI Thesaurus Code C75118 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AN an osteochondrodysplasia MSH
AQL BL CF CI CL CN 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
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
CTV3ID X78Am SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 33193 GARD
DISEASE_IDENTIFIER_ID 6145 GARD
DISEASE_IDENTIFIER_ID 6146 GARD
DISEASE_IDENTIFIER_ID 6147 GARD
DISEASE_IDENTIFIER_ID 6148 GARD
DISEASE_IDENTIFIER_ID 6149 GARD
DISEASE_IDENTIFIER_ID 6150 GARD
DISEASE_IDENTIFIER_ID 6151 GARD
DX 19900101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
GENELOCUS ,8,q,2,4,.,1,1,-,q,2,4,.,1,3, OMIM
GENESYMBOL LGCR OMIM
GENESYMBOL LGS OMIM
GENESYMBOL TRPS2 OMIM
HAS_GARD_PAGE true GARD
HN 90; was GIEDION-LANGER SYNDROME see EXOSTOSES, MULTIPLE 1968-89 MSH
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2010-02-05T00:00:00 GARD
MDA 19890515 MSH
MESH_DEFINITION Autosomal dominant disorder characterized by cone-shaped epiphyses in the hands and multiple cartilaginous exostoses. INTELLECTUAL DISABILITY and abnormalities of chromosome 8 are often present. The exostoses in this syndrome appear identical to those of hereditary multiple exostoses (EXOSTOSES, HEREDITARY MULTIPLE). NDFRT
MESH_DUI D015826 NDFRT
MESH_NAME Langer-Giedion Syndrome NDFRT
MESH_UI M0024244 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20130708 MSH
MN C05.116.099.708.582 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000003329 NDFRT
OL use EXOSTOSES, MULTIPLE to search GIEDION-LANGER SYNDROME 1968-89 MSH
PM 90; was GIEDION-LANGER SYNDROME see EXOSTOSES, MULTIPLE 1968-89 MSH
PRIMARY_PATH 10050638$10003842$10008804$10010331$Langer-Giedion syndrome$Autosomal chromosomal abnormalities$Chromosomal abnormalities and abnormal gene carriers$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 20.0 MDR
PT_IN_VERSION 20.1 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/7801/trichorhinophalangeal-syndrome-type-2/resources/1 GARD
RXAUI 3105767 RXNORM
RXAUI 3165409 RXNORM
RXAUI 3188141 RXNORM
RXAUI 3188142 RXNORM
RXAUI 3250634 RXNORM
RXAUI 3250635 RXNORM
RXAUI 5040026 RXNORM
RXAUI 5932343 RXNORM
RXAUI 5932373 RXNORM
RXAUI 5932376 RXNORM
RXCUI 1026795 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 41069008 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS Q93.5 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~Q93.5 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS Q87.2 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE 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~Q87.2 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~X78Am 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 T046932 MSH
TERMUI T046933 MSH
TERMUI T046934 MSH
TERMUI T046935 MSH
TERMUI T046936 MSH
TERMUI T824576 MSH
TERMUI T844310 MSH
TERMUI T844311 MSH
TERMUI T844312 MSH
TH GHR (2014) MSH
TH NLM (1990) MSH
TH OMIM (2013) MSH
TH ORD (2010) 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=C0023003

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