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771240009: Pilodental dysplasia, refractive errors syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3705208019 Kopysc Barczyk Krol syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3705209010 Pilodental dysplasia, refractive errors syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3705210017 Pilodental dysplasia, refractive errors syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3705211018 Euhidrotic ectodermal dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3705212013 A rare ectodermal dysplasia syndrome with characteristics of dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4218921000052110 syndrom med dysplasi med hår-tanddefekter och brytningsfel sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Pilodental dysplasia, refractive errors syndrome (disorder) Is a Congenital anomaly of tooth (disorder) false Inferred relationship Some
Pilodental dysplasia, refractive errors syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Pilodental dysplasia, refractive errors syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Pilodental dysplasia, refractive errors syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Pilodental dysplasia, refractive errors syndrome (disorder) Is a Ectodermal dysplasia with hair-tooth defects true Inferred relationship Some
Pilodental dysplasia, refractive errors syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Pilodental dysplasia, refractive errors syndrome (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Pilodental dysplasia, refractive errors syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Pilodental dysplasia, refractive errors syndrome (disorder) Occurrence Congenital true Inferred relationship Some 5
Pilodental dysplasia, refractive errors syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Pilodental dysplasia, refractive errors syndrome (disorder) Is a Digestive system hereditary disorder (disorder) false Inferred relationship Some
Pilodental dysplasia, refractive errors syndrome (disorder) Is a Congenital anomaly of hair false Inferred relationship Some
Pilodental dysplasia, refractive errors syndrome (disorder) Is a Disorder of refraction true Inferred relationship Some
Pilodental dysplasia, refractive errors syndrome (disorder) Finding site Structure of visual system (body structure) true Inferred relationship Some 3
Pilodental dysplasia, refractive errors syndrome (disorder) Finding site Hair structure (body structure) true Inferred relationship Some 5
Pilodental dysplasia, refractive errors syndrome (disorder) Finding site Skin structure false Inferred relationship Some 1
Pilodental dysplasia, refractive errors syndrome (disorder) Finding site Tooth structure true Inferred relationship Some 2
Pilodental dysplasia, refractive errors syndrome (disorder) Finding site Ectoderm structure true Inferred relationship Some 1
Pilodental dysplasia, refractive errors syndrome (disorder) Finding site Ectoderm structure false Inferred relationship Some 4
Pilodental dysplasia, refractive errors syndrome (disorder) Associated morphology kongenital dysplasi false Inferred relationship Some 4
Pilodental dysplasia, refractive errors syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Pilodental dysplasia, refractive errors syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 4
Pilodental dysplasia, refractive errors syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Pilodental dysplasia, refractive errors syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Pilodental dysplasia, refractive errors syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Pilodental dysplasia, refractive errors syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Pilodental dysplasia, refractive errors syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 1
Pilodental dysplasia, refractive errors syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 5
Pilodental dysplasia, refractive errors syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Pilodental dysplasia, refractive errors syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Pilodental dysplasia, refractive errors syndrome (disorder) Is a Hereditary disorder of tooth true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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