204164000: Blue sclera (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of sclera\Abnormal blue sclerae
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of sclera\Congenital anomaly of sclera\Abnormal blue sclerae
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of sclera\Abnormal blue sclerae
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of sclera\Congenital anomaly of sclera\Abnormal blue sclerae
\Head finding (finding)\Finding of head region\Globe finding\Sclera and episclera finding\Disorder of sclera\Congenital anomaly of sclera\Abnormal blue sclerae
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of sclera\Abnormal blue sclerae
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of sclera\Congenital anomaly of sclera\Abnormal blue sclerae
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of sclera\Abnormal blue sclerae

\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of sclera\Abnormal blue sclerae
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of sclera\Congenital anomaly of sclera\Abnormal blue sclerae
\Eye / vision finding\Globe finding\Sclera and episclera finding\Disorder of sclera\Congenital anomaly of sclera\Abnormal blue sclerae
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of sclera\Abnormal blue sclerae
\Eye / vision finding\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of sclera\Congenital anomaly of sclera\Abnormal blue sclerae
\Eye / vision finding\Visual system disorder (disorder)\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of sclera\Abnormal blue sclerae

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of sclera\Abnormal blue sclerae
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of sclera\Congenital anomaly of sclera\Abnormal blue sclerae
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of sclera\Abnormal blue sclerae
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of sclera\Abnormal blue sclerae
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of sclera\Abnormal blue sclerae
\Disease\Disorder of body system\Visual system disorder (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of sclera\Congenital anomaly of sclera\Abnormal blue sclerae
\Disease\Disorder of body system\Visual system disorder (disorder)\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of sclera\Abnormal blue sclerae
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of sclera\Abnormal blue sclerae
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of sclera\Congenital anomaly of sclera\Abnormal blue sclerae
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of sclera\Abnormal blue sclerae
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of sclera\Abnormal blue sclerae
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of sclera\Abnormal blue sclerae

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

313076016 Abnormal blue sclerae en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

313077013 Blue sclera en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

589353018 Blue sclera (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Abnormal blue sclerae	Is a	Congenital anomaly of sclera	true	Inferred relationship	Some
Abnormal blue sclerae	Occurrence	Congenital	false	Inferred relationship	Some
Abnormal blue sclerae	Finding site	Scleral structure	true	Inferred relationship	Some	1
Abnormal blue sclerae	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some
Abnormal blue sclerae	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Abnormal blue sclerae	Has definitional manifestation	Blue sclerae	false	Inferred relationship	Some
Abnormal blue sclerae	Occurrence	Congenital	false	Inferred relationship	Some
Abnormal blue sclerae	Finding site	Structure of sclera proper (body structure)	false	Inferred relationship	Some
Abnormal blue sclerae	Finding site	Scleral structure	false	Inferred relationship	Some	1
Abnormal blue sclerae	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Abnormal blue sclerae	Occurrence	Congenital	false	Inferred relationship	Some	2
Abnormal blue sclerae	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Abnormal blue sclerae	Finding site	Scleral structure	false	Inferred relationship	Some	2
Abnormal blue sclerae	Occurrence	Congenital	true	Inferred relationship	Some	1
Abnormal blue sclerae	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Abnormal blue sclerae	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Osteogenesis imperfecta with blue sclerae	Is a	False	Abnormal blue sclerae	Inferred relationship	Some
A rare, genetic, renal malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978.	Is a	True	Abnormal blue sclerae	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae AND normal teeth	Is a	True	Abnormal blue sclerae	Inferred relationship	Some
Blue sclera of bilateral eyes	Is a	True	Abnormal blue sclerae	Inferred relationship	Some
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by infantile onset of global developmental delay, severe intellectual disability, growth deficiency, microcephaly, strabismus, blue-gray sclerae, and extensive Mongolian spots. Some patients also present with epilepsy. Brain imaging may demonstrate variable abnormalities including cerebral atrophy, thin corpus callosum, ventriculomegaly, or arachnoid cysts.	Is a	True	Abnormal blue sclerae	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set

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Id	Description	Lang	Type	Status	Case?	Module
313076016	Abnormal blue sclerae	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
313077013	Blue sclera	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
589353018	Blue sclera (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core