15228007: Atrophia bulborum hereditaria (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)\Degenerative disorder of eye\Atrophy of globe of eye\Atrophic retina (disorder)\Atrophia bulborum hereditaria
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Atrophic retina (disorder)\Atrophia bulborum hereditaria
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Atrophic retina (disorder)\Atrophia bulborum hereditaria
\Head finding (finding)\Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Atrophic retina (disorder)\Atrophia bulborum hereditaria
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Atrophy of globe of eye\Atrophic retina (disorder)\Atrophia bulborum hereditaria
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Atrophic retina (disorder)\Atrophia bulborum hereditaria
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Atrophic retina (disorder)\Atrophia bulborum hereditaria
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Atrophy of globe of eye\Atrophic retina (disorder)\Atrophia bulborum hereditaria
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Atrophic retina (disorder)\Atrophia bulborum hereditaria
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Atrophic retina (disorder)\Atrophia bulborum hereditaria

\Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Atrophic retina (disorder)\Atrophia bulborum hereditaria
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Atrophy of globe of eye\Atrophic retina (disorder)\Atrophia bulborum hereditaria
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Atrophic retina (disorder)\Atrophia bulborum hereditaria
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Atrophic retina (disorder)\Atrophia bulborum hereditaria
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Atrophy of globe of eye\Atrophic retina (disorder)\Atrophia bulborum hereditaria
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Atrophic retina (disorder)\Atrophia bulborum hereditaria
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Atrophic retina (disorder)\Atrophia bulborum hereditaria
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Atrophia bulborum hereditaria

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Atrophy of globe of eye\Atrophic retina (disorder)\Atrophia bulborum hereditaria
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Atrophic retina (disorder)\Atrophia bulborum hereditaria
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Atrophic retina (disorder)\Atrophia bulborum hereditaria
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Atrophia bulborum hereditaria
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Atrophia bulborum hereditaria
\Disease\Degenerative disorder\Degenerative disorder of eye\Atrophy of globe of eye\Atrophic retina (disorder)\Atrophia bulborum hereditaria
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Atrophic retina (disorder)\Atrophia bulborum hereditaria
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Atrophia bulborum hereditaria
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Atrophy of globe of eye\Atrophic retina (disorder)\Atrophia bulborum hereditaria
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Atrophic retina (disorder)\Atrophia bulborum hereditaria
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Atrophic retina (disorder)\Atrophia bulborum hereditaria
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Atrophia bulborum hereditaria
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Atrophy of globe of eye\Atrophic retina (disorder)\Atrophia bulborum hereditaria
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Atrophic retina (disorder)\Atrophia bulborum hereditaria
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Atrophic retina (disorder)\Atrophia bulborum hereditaria

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

25843016 Atrophia bulborum hereditaria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

25844010 Norrie's disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

25845011 Oligophrenia microphthalmus en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

741991012 Atrophia bulborum hereditaria (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
Atrophia bulborum hereditaria	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Atrophia bulborum hereditaria	Is a	Multisystem disorder M-N	false	Inferred relationship	Some
Atrophia bulborum hereditaria	Is a	Congenital anomaly of eye	false	Inferred relationship	Some
Atrophia bulborum hereditaria	Is a	Retinal disorder	false	Inferred relationship	Some
Atrophia bulborum hereditaria	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Atrophia bulborum hereditaria	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Atrophia bulborum hereditaria	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some
Atrophia bulborum hereditaria	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Atrophia bulborum hereditaria	Associated morphology	Atrophy	false	Inferred relationship	Some	1
Atrophia bulborum hereditaria	Finding site	Retinal structure	false	Inferred relationship	Some	1
Atrophia bulborum hereditaria	Occurrence	Congenital	false	Inferred relationship	Some
Atrophia bulborum hereditaria	Is a	Degeneration of retina	false	Inferred relationship	Some
Atrophia bulborum hereditaria	Is a	Multisystem disorder	false	Inferred relationship	Some
Atrophia bulborum hereditaria	Is a	Retina atrophic	false	Inferred relationship	Some
Atrophia bulborum hereditaria	Is a	Atrophic retina (disorder)	true	Inferred relationship	Some
Atrophia bulborum hereditaria	Associated morphology	Atrophy	true	Inferred relationship	Some	1
Atrophia bulborum hereditaria	Finding site	Retinal structure	true	Inferred relationship	Some	1
Atrophia bulborum hereditaria	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
25843016	Atrophia bulborum hereditaria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
25844010	Norrie's disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
25845011	Oligophrenia microphthalmus	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
741991012	Atrophia bulborum hereditaria (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core