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Achondroplasia (CUI C0001080) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0001080

NCI Thesaurus Code: C34345  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

Semantic Type: Congenital Abnormality

NCIt Definition: An autosomal dominant disorder caused by mutation(s) in the FGFR3 gene, encoding fibroblast growth factor receptor 3. The condition is characterized by inappropriate cartilage growth plate differentiation and deficient endochondral growth, manifest clinically with severe rhizomelic short stature, short limbs, characteristic facies with frontal bossing and midface hypoplasia.

GARD Definition: Achondroplasia is a disorder of bone growth that prevents the changing of cartilage (particularly in the long bones of the arms and legs) to bone. It is characterized by dwarfism, limited range of motion at the elbows, large head size, small fingers, and normal intelligence. Achondroplasia can cause health complications such as apnea, obesity, recurrent ear infections, and lordosis of the spine. Achondroplasia is caused by mutations in the FGFR3 gene. It is inherited in an autosomal dominant fashion. - this information is from GARD/ORDR/NCATS.

NICHD Definition: An autosomal dominant disorder caused by mutation(s) in the FGFR3 gene, encoding fibroblast growth factor receptor 3. The condition results in inappropriate cartilage growth plate differentiation and deficient endochondral growth, and manifests clinically with severe rhizomelic short stature.

CSP Definition: autosomal dominant disorder that is the most frequent form of short-limb dwarfism; a disturbance of epiphyseal chondroblastic growth, causing inadequate enchondral bone formation.

MSH Definition: An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)

Synonyms & Abbreviations: (see Synonym Details)
Achondroplasia (disorder)
Achondroplasia [Disease/Finding]
Achondroplasias
Achondroplasia
Achondroplastic dwarfism
Achondroplastic dwarf
ACH
CHONDRODYSTROPHIA FETALIS
Chondrodystrophia
Congenital osteosclerosis
DWARFISM, ACHONDROPLASTIC
osteosclerosis congenita

External Source Codes: 
NCI Thesaurus Code C34345 (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 900000000000448009 SNOMEDCT_US
Contributing_Source NICHD NCI
CTV3ID XE1M7 SNOMEDCT_US
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 1849-0171 CSP
DID 2715-2940 CSP
DISEASE_IDENTIFIER_ID 262 GARD
DISEASE_IDENTIFIER_ID 263 GARD
DX 19660101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
FR 6 MSH
FX D051498 MSH
GENELOCUS ,4,p,1,6,.,3, OMIM
GENESYMBOL ACH OMIM
GENESYMBOL FGFR3 OMIM
HAS_GARD_PAGE true GARD
HM D000130 MSH
IAN DEFAULT ICD10
IDENTIFIER_TYPE_ID 1 GARD
INCLUSION_TERM Hypochondroplasia ICD10
INCLUSION_TERM Osteosclerosis congenita ICD10
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2009-11-12T00:00:00 GARD
MDA 19990101 MSH
MDA 20100625 MSH
MESH_DEFINITION An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001) NDFRT
MESH_DUI D000130 NDFRT
MESH_NAME Achondroplasia NDFRT
MESH_UI M0000205 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20130708 MSH
MMR 20131024 MSH
MN C05.116.099.343.110 MSH
MN C05.116.099.708.017 MSH
MN C16.320.240.500 MSH
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Achondroplasia NCI
NUI N0000000281 NDFRT
ORDER_NO 28035 ICD10CM
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/8173/achondroplasia/resources/1 GARD
RN 0 MSH
RXAUI 3105017 RXNORM
RXAUI 3105018 RXNORM
RXCUI 1024318 RXNORM
SC 3 MSH
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A 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 86268005 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS Q77.4 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~Q77.4 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS Q77.4 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF SEVERE ACHONDROLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS CHOOSE L83 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF SEVERE ACHONDROLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS CHOOSE R62.50 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447638001 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447639009 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~3 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 699870002 | Severe achondrolasia with developmental delay and acanthosis nigricans | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~OTHERWISE TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~L83 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q77.4 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~R62.50 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~ SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XE1M7 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 T000387 MSH
TERMUI T726987 MSH
TH GHR (2014) MSH
TH NLM (1966) 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=C0001080

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