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9446007: Coloboma of iris (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
iriskolobom	Is a	Disorder of iris	false	Inferred relationship	Some
iriskolobom	Finding site	Iris structure	false	Inferred relationship	Some	1
iriskolobom	Finding site	Uveal tract structure	false	Inferred relationship	Some
iriskolobom	Is a	Congenital ocular coloboma (disorder)	false	Inferred relationship	Some
iriskolobom	Is a	Congenital anomaly of iris	false	Inferred relationship	Some
iriskolobom	Associated morphology	Defekt	false	Inferred relationship	Some	2
iriskolobom	Associated morphology	kongenit manglende sammenvoksning	false	Inferred relationship	Some	1
iriskolobom	Finding site	Eye structure	false	Inferred relationship	Some	2
iriskolobom	Occurrence	Congenital	false	Inferred relationship	Some
iriskolobom	Associated morphology	Defekt	false	Inferred relationship	Some	2
iriskolobom	Associated morphology	kongenit manglende sammenvoksning	false	Inferred relationship	Some	1
iriskolobom	Finding site	Iris structure	false	Inferred relationship	Some	1
iriskolobom	Finding site	Eye structure	false	Inferred relationship	Some	2
iriskolobom	Is a	Disorder of iris	false	Inferred relationship	Some
iriskolobom	Occurrence	Congenital	false	Inferred relationship	Some	3
iriskolobom	Associated morphology	kongenit manglende sammenvoksning	false	Inferred relationship	Some	3
iriskolobom	Finding site	Eye structure	false	Inferred relationship	Some	3
iriskolobom	Associated morphology	kongenit manglende sammenvoksning	false	Inferred relationship	Some	4
iriskolobom	Finding site	Iris structure	false	Inferred relationship	Some	4
iriskolobom	Occurrence	Congenital	false	Inferred relationship	Some	4

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by uveal coloboma (typically bilateral) variably associated with cleft lip, palate and/or uvula, hearing impairment, and intellectual disability. The spectrum of eye involvement is also variable and includes iris coloboma extending to the choroid, disc, and/or macula, microphthalmia, cataract, and extraocular movement impairment.	Is a	False	iriskolobom	Inferred relationship	Some
Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997.	Is a	False	iriskolobom	Inferred relationship	Some
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.	Is a	False	iriskolobom	Inferred relationship	Some

Reference Sets

REPLACED BY association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
16552011	Coloboma of iris	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
511312019	Notched iris	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
511313012	Congenital coloboma of iris	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
838409019	Coloboma of iris (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2054631000005111	iriskolobom	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)