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28835009: Retinitis pigmentosa (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\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa
\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\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa
\Head finding (finding)\Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa
\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\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa
\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\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa
\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\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa
\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\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Retinitis pigmentosa	Is a	Hereditary retinal dystrophy	true	Inferred relationship	Some
Retinitis pigmentosa	Is a	Autosomal hereditary disorder	false	Inferred relationship	Some
Retinitis pigmentosa	Finding site	Retinal structure	false	Inferred relationship	Some
Retinitis pigmentosa	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Retinitis pigmentosa	Finding site	Retinal structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal dominant retinitis pigmentosa	Is a	True	Retinitis pigmentosa	Inferred relationship	Some
Autosomal recessive retinitis pigmentosa	Is a	True	Retinitis pigmentosa	Inferred relationship	Some
X-linked retinitis pigmentosa	Is a	True	Retinitis pigmentosa	Inferred relationship	Some
X-linked retinitis pigmentosa heterozygote	Is a	False	Retinitis pigmentosa	Inferred relationship	Some
Retinitis pigmentosa-deafness syndrome	Is a	False	Retinitis pigmentosa	Inferred relationship	Some
Tapetoretinal dystrophy	Is a	True	Retinitis pigmentosa	Inferred relationship	Some
HSMN IV	Is a	True	Retinitis pigmentosa	Inferred relationship	Some
Family history of retinitis pigmentosa (situation)	Associated finding	True	Retinitis pigmentosa	Inferred relationship	Some	1
Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchiectasis and chronic sinusitis) and sensorineural hearing loss.	Is a	False	Retinitis pigmentosa	Inferred relationship	Some
A rare ectodermal dysplasia syndrome characterized by bilateral retinitis pigmentosa, trichodysplasia (generalized hypotrichosis, structural changes), dental anomalies, onychodysplasia, and dry and scaly skin. There have been no further descriptions in the literature since 1988.	Is a	False	Retinitis pigmentosa	Inferred relationship	Some
A rare genetic, syndromic retinal disorder characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia.	Is a	False	Retinitis pigmentosa	Inferred relationship	Some
A rare endocrine syndrome characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa.	Is a	True	Retinitis pigmentosa	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of facial dysmorphism (mild eyelid ptosis, xanthelasma, anteverted nostrils, bifid nasal tip, short palate), severe muscle wasting and cachexia, retinitis pigmentosa, numerous lentigines and cafe-au-lait spots, as well as mild soft tissue syndactyly. Additional features include nasal speech, chest asymmetry, pectus excavatum, genu varum, pes planus, and thyroid papillary carcinoma and diffuse enlargement. There has been no further description in the literature since 1984.	Is a	True	Retinitis pigmentosa	Inferred relationship	Some
History of retinitis pigmentosa	Associated finding	True	Retinitis pigmentosa	Inferred relationship	Some	1
Retinitis pigmentosa due to systemic disease	Is a	True	Retinitis pigmentosa	Inferred relationship	Some
A clinically heterogeneous progressive condition with characteristics of a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy. NARP syndrome is a maternally inherited syndrome and women can transmit to all their offspring. Clinical severity usually depends on the mutation load.	Is a	True	Retinitis pigmentosa	Inferred relationship	Some

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
48282015	Retinitis pigmentosa	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
759560017	Retinitis pigmentosa (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1226074019	RP - Retinitis pigmentosa	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2166201000005112	Retinitis pigmentosa	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)