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723584003: Stern Lubinsky Durrie syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
3425182013 Stern Lubinsky Durrie syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3425183015 Stern Lubinsky Durrie syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3425184014 Corneo-dermato-osseous syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3425185010 Corneodermatoosseous syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403126018 A rare, genetic, ectodermal dysplasia syndrome characterized by corneal epithelial changes (ranging from roughening to nodular irregularities), diffuse palmoplantar hyperkeratosis with thickened, erythematous, scaly lesions affecting the elbows, knees and knuckles, distal onycholysis, brachydactyly accompanied by a single transverse palmar crease, short stature, premature birth, and increased susceptibility to tooth decay. Ocular symptoms include photophobia, reduced night vision, burning and watery eyes, and varying visual acuity. There have been no further descriptions in the literature since 1984. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403127010 A rare, genetic, ectodermal dysplasia syndrome characterised by corneal epithelial changes (ranging from roughening to nodular irregularities), diffuse palmoplantar hyperkeratosis with thickened, erythematous, scaly lesions affecting the elbows, knees and knuckles, distal onycholysis, brachydactyly accompanied by a single transverse palmar crease, short stature, premature birth, and increased susceptibility to tooth decay. Ocular symptoms include photophobia, reduced night vision, burning and watery eyes, and varying visual acuity. There have been no further descriptions in the literature since 1984. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3425182013 Stern Lubinsky Durrie syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3425183015 Stern Lubinsky Durrie syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3425184014 Corneo-dermato-osseous syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3425185010 Corneodermatoosseous syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3425186011 Syndrome with characteristics of corneal epithelial changes (associated with photophobia and burning and watering of the eyes), diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, dental problems and premature birth. It has been described in seven individuals from three generations of one family. It is transmitted as an autosomal dominant trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403126018 A rare, genetic, ectodermal dysplasia syndrome characterized by corneal epithelial changes (ranging from roughening to nodular irregularities), diffuse palmoplantar hyperkeratosis with thickened, erythematous, scaly lesions affecting the elbows, knees and knuckles, distal onycholysis, brachydactyly accompanied by a single transverse palmar crease, short stature, premature birth, and increased susceptibility to tooth decay. Ocular symptoms include photophobia, reduced night vision, burning and watery eyes, and varying visual acuity. There have been no further descriptions in the literature since 1984. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403127010 A rare, genetic, ectodermal dysplasia syndrome characterised by corneal epithelial changes (ranging from roughening to nodular irregularities), diffuse palmoplantar hyperkeratosis with thickened, erythematous, scaly lesions affecting the elbows, knees and knuckles, distal onycholysis, brachydactyly accompanied by a single transverse palmar crease, short stature, premature birth, and increased susceptibility to tooth decay. Ocular symptoms include photophobia, reduced night vision, burning and watery eyes, and varying visual acuity. There have been no further descriptions in the literature since 1984. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
651001000274112 Stern-Lubinsky-Durrie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3390281001000116 Korneo-dermato-ossäres-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
651001000274112 Stern-Lubinsky-Durrie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3390281001000116 Korneo-dermato-ossäres-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Stern Lubinsky Durrie syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Stern Lubinsky Durrie syndrome (disorder) Is a Hereditary corneal dystrophy true Inferred relationship Existential restriction modifier (core metadata concept)
Stern Lubinsky Durrie syndrome (disorder) Is a Ectodermal dysplasia with tooth-nail defects true Inferred relationship Existential restriction modifier (core metadata concept)
Stern Lubinsky Durrie syndrome (disorder) Is a Corneal epithelium finding false Inferred relationship Existential restriction modifier (core metadata concept)
Stern Lubinsky Durrie syndrome (disorder) Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Stern Lubinsky Durrie syndrome (disorder) Is a Dystrophy of anterior cornea true Inferred relationship Existential restriction modifier (core metadata concept)
Stern Lubinsky Durrie syndrome (disorder) Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 3
Stern Lubinsky Durrie syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Stern Lubinsky Durrie syndrome (disorder) Finding site Structure of corneal epithelium (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Stern Lubinsky Durrie syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Stern Lubinsky Durrie syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Stern Lubinsky Durrie syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 5
Stern Lubinsky Durrie syndrome (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Stern Lubinsky Durrie syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 4
Stern Lubinsky Durrie syndrome (disorder) Finding site Ectoderm structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Stern Lubinsky Durrie syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Stern Lubinsky Durrie syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Stern Lubinsky Durrie syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Stern Lubinsky Durrie syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Stern Lubinsky Durrie syndrome (disorder) Is a Congenital structural abnormality of cornea false Inferred relationship Existential restriction modifier (core metadata concept)
Stern Lubinsky Durrie syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Stern Lubinsky Durrie syndrome (disorder) Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Stern Lubinsky Durrie syndrome (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Stern Lubinsky Durrie syndrome (disorder) Finding site Ectoderm structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Stern Lubinsky Durrie syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Stern Lubinsky Durrie syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Stern Lubinsky Durrie syndrome (disorder) Is a Digestive system hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Stern Lubinsky Durrie syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 5
Stern Lubinsky Durrie syndrome (disorder) Is a Genetic disorder of nail (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Stern Lubinsky Durrie syndrome (disorder) Finding site Nail unit structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Stern Lubinsky Durrie syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Stern Lubinsky Durrie syndrome (disorder) Is a Corneal epithelial degeneration true Inferred relationship Existential restriction modifier (core metadata concept)
Stern Lubinsky Durrie syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Stern Lubinsky Durrie syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Stern Lubinsky Durrie syndrome (disorder) Finding site Tooth structure true Inferred relationship Existential restriction modifier (core metadata concept) 5
Stern Lubinsky Durrie syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Stern Lubinsky Durrie syndrome (disorder) Is a Congenital dystrophy of cornea (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Stern Lubinsky Durrie syndrome (disorder) Is a Hereditary disorder of tooth true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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