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28835009: Retinitis pigmentosa (disorder)

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
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
949071000195116 retinite pigmentosa it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
614231000172113 rétinite pigmentaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3427871001000115 Retinitis pigmentosa de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

31 descendants. Search Descendants:

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 characterized by facial dysmorphism (mild eyelid ptosis, xanthelasma, anteverted nostrils, bifid nasal tip, short palate), severe muscle wasting and cachexia, retinitis pigmentosa, numerous lentigines and café-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 characterised by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy. Is a True Retinitis pigmentosa Inferred relationship Some

This concept is not in any reference sets

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