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Aniridia (CUI C0003076) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0003076

NCI Thesaurus Code: C84563  (see NCI Thesaurus info)

Semantic Type: Congenital Abnormality

NCIt Definition: A rare genetic inherited abnormality characterized by the partial or complete absence of the iris of the eye.

GARD Definition: 

Aniridia is an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris). These iris abnormalities may cause the pupils to be abnormal or misshapen. Aniridia can cause reduction in the sharpness of vision (visual acuity) and increased sensitivity to light (photophobia).   Aniridia may occur either as an isolated eye abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome.

People with aniridia can also have other eye problems including increased pressure in the eye (glaucoma), clouding of the lens of the eye (cataracts), or underdevelopment of the structures that carry information from the eyes to the brain (optic nerves).  Individuals with aniridia may also have involuntary eye movements (nystagmus) or underdevelopment of the region at the back of the eye responsible for sharp central vision (foveal hypoplasia). Many of these eye problems contribute to progressive vision loss in affected individuals. The severity of symptoms is typically the same in both eyes.  Rarely, people with aniridia have behavioral problems, developmental delay, and problems detecting odors.

Aniridia may be caused by mutations in the PAX6 gene and is inherited in an autosomal dominant pattern. - this information is from GARD/ORDR/NCATS.

HPO Definition: Congenital absence of the iris. [HPO:probinson]

MSH Definition: A congenital abnormality in which there is only a rudimentary iris. This is due to the failure of the optic cup to grow. Aniridia also occurs in a hereditary form, usually autosomal dominant.

Synonyms & Abbreviations: (see Synonym Details)
Absence of iris
Absent iris
Agenesis of iris
AN2, FORMERLY
Anirida
Aniridia [Disease/Finding]
ANIRIDIA II, FORMERLY
ANIRIDIA
AN
Aplasia of iris
Congenital absence of iris
Congenital aniridia (disorder)
Congenital Aniridia
Irideraemia
Irideremia

External Source Codes: 
NCI Thesaurus Code C84563 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AN rudimentary iris; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES MSH
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
CTV3ID P343. SNOMEDCT_US
DC 1 MSH
DEFINITION_STATUS_ID 900000000000073002 SNOMEDCT_US
DX 19900101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
GENELOCUS ,1,1,p,1,3, OMIM
GENESYMBOL AN2 OMIM
GENESYMBOL FVH1 OMIM
GENESYMBOL MGDA OMIM
GENESYMBOL PAX6 OMIM
HAS_GARD_PAGE true GARD
HN 90 MSH
IAN DEFAULT ICD10
INCLUSION_TERM Aniridia ICD10
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2011-03-30T00:00:00 GARD
MDA 19890525 MSH
MESH_DEFINITION A congenital abnormality in which there is only a rudimentary iris. This is due to the failure of the optic cup to grow. Aniridia also occurs in a hereditary form, usually autosomal dominant. NDFRT
MESH_DUI D015783 NDFRT
MESH_NAME Aniridia NDFRT
MESH_UI M0024176 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20130708 MSH
MN C11.250.060 MSH
MN C11.270.060 MSH
MN C11.941.375.060 MSH
MN C16.131.384.079 MSH
MN C16.320.290.078 MSH
MOVED_FROM 106200 OMIM
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000003313 NDFRT
ORDER_NO 27335 ICD10CM
PM 90 MSH
PRIMARY_PATH 10002532$10022946$10015920$10010331$Aniridia$Iris and choroid disorders congenital$Eye 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 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/5816/aniridia/resources/1 GARD
REF orcid.org/0000-0001-5208-3432 HPO
RXAUI 3109389 RXNORM
RXAUI 3109390 RXNORM
RXAUI 5930130 RXNORM
RXAUI 5930595 RXNORM
RXAUI 5931266 RXNORM
RXCUI 984531 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 69278003 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS Q13.1 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~Q13.1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS Q13.1 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF 11P PARTIAL MONOSOMY SYNDROME CHOOSE Q93.89 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF ANIRIDIA AND ABSENT PATELLA SYNDROME CHOOSE Q74.1 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF ANIRIDIA AND INTELLECTUAL DISABILITY SYNDROME CHOOSE F79 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF ANIRIDIA, PTOSIS, INTELLECTUAL DISABILITY, FAMILIAL OBESITY SYNDROME CHOOSE E66.8 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF ANIRIDIA, PTOSIS, INTELLECTUAL DISABILITY, FAMILIAL OBESITY SYNDROME CHOOSE F79 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF ANIRIDIA, PTOSIS, INTELLECTUAL DISABILITY, FAMILIAL OBESITY SYNDROME CHOOSE Q10.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF ANIRIDIA, RENAL AGENESIS, PSYCHOMOTOR RETARDATION SYNDROME CHOOSE Q60.2 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF ANIRIDIA, RENAL AGENESIS, PSYCHOMOTOR RETARDATION SYNDROME CHOOSE R41.843 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF POTOCKI-SHAFFER SYNDROME CHOOSE Q93.5 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF WAGR SYNDROME AND IF FEMALE CHOOSE Q52.9 | MAP IS CONTEXT DEPENDENT FOR GENDER SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF WAGR SYNDROME AND IF MALE CHOOSE Q55.9 | MAP IS CONTEXT DEPENDENT FOR GENDER SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF WAGR SYNDROME CHOOSE C64.9 | CONSIDER LATERALITY SPECIFICATION | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF WAGR SYNDROME CHOOSE F79 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF WAGR SYNDROME CHOOSE Q13.1 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | 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~MAPGROUP~4 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~3 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~4 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~5 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~6 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 4135001 | 11p partial monosomy syndrome | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 702346005 | Potocki-Shaffer syndrome | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 715215007 | WAGR syndrome | AND IFA 248152002 | Female (finding) | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 715215007 | WAGR syndrome | AND IFA 248153007 | Male (finding) | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 715215007 | WAGR syndrome | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 720467005 | Aniridia and absent patella syndrome | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 720468000 | Aniridia and intellectual disability syndrome | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 720987001 | Aniridia, ptosis, intellectual disability, familial obesity syndrome | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 733116005 | Aniridia, renal agenesis, psychomotor retardation syndrome | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~OTHERWISE TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~C64.9 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~E66.8 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~F79 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q10.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q13.1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q52.9 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q55.9 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q60.2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q74.1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q93.5 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q93.89 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~R41.843 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~ SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~P343. 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 T046805 MSH
TERMUI T840905 MSH
TERMUI T840906 MSH
TERMUI T840907 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
USE_ADDITIONAL code for associated glaucoma (H42) ICD10CM

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0003076

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