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Congenital ocular coloboma (disorder) (CUI C0009363) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0009363

NCI Thesaurus Code: C98877  (see NCI Thesaurus info)

Semantic Type: Congenital Abnormality

NCIt Definition: An abnormality in which a part of a structure in one or both eyes is missing.

HPO Definition: A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa. [HPO:probinson]

MSH Definition: Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation.

Synonyms & Abbreviations: (see Synonym Details)
COI - Coloboma of iris, choroid and retina
COI
Coloboma [Disease/Finding]
Coloboma NOS
Coloboma of eye
Coloboma of iris, choroid and retina
Coloboma Of Iris, Choroid, And Retina
Coloboma of iris, retina, and choroid
Coloboma of the Eye
COLOBOMA, OCULAR, AUTOSOMAL DOMINANT
Coloboma, Ocular
Coloboma, Uveoretinal
Colobomas
Colobomata
Coloboma
Congenital ocular coloboma (disorder)
Congenital ocular coloboma
Ocular colobomas
Ocular coloboma
Uveoretinal Coloboma

External Source Codes: 
NCI Thesaurus Code C98877 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AN eye abnorm; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES; coord IM with specific site in eye /abnorm (IM) 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 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
CTV3ID XUNyc SNOMEDCT_US
DATE_CREATED 2015-01-22T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000073002 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 31159 GARD
DX 19730101 MSH
EFFECTIVE_TIME 20050131 SNOMEDCT_US
GENELOCUS ,1,1,p,1,3, OMIM
GENESYMBOL AN2 OMIM
GENESYMBOL FVH1 OMIM
GENESYMBOL MGDA OMIM
GENESYMBOL PAX6 OMIM
HN 73(65) MSH
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
MDA 19990101 MSH
MESH_DEFINITION Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation. NDFRT
MESH_DUI D003103 NDFRT
MESH_NAME Coloboma NDFRT
MESH_UI M0004804 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20130708 MSH
MN C11.250.110 MSH
MN C16.131.384.282 MSH
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000000810 NDFRT
PM 73 MSH
PRIMARY_PATH 10009934$10027673$10015920$10010331$Coloboma$Ocular disorders congenital NEC$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 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RXAUI 3134483 RXNORM
RXAUI 3134484 RXNORM
RXAUI 5039095 RXNORM
RXAUI 5039096 RXNORM
RXAUI 5039097 RXNORM
RXAUI 5931831 RXNORM
RXAUI 5932406 RXNORM
RXCUI 1024761 RXNORM
SID HP:0007767 HPO
SID HP:0007995 HPO
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 92828000 NDFRT
SNOMED_CID 93390002 NDFRT
SNOMEDID D4-A0006 SNOMEDCT_US
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS Q13.0 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~Q13.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS Q13.0 | 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~Q13.0 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XUNyc SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~D4-A0006 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 T009043 MSH
TERMUI T811466 MSH
TERMUI T811467 MSH
TERMUI T811468 MSH
TERMUI T841140 MSH
TERMUI T841141 MSH
TH GHR (2014) MSH
TH NLM (1965) MSH
TH NLM (2014) MSH
TH OMIM (2013) 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=C0009363

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