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771240009: Pilodental dysplasia, refractive errors syndrome (disorder)


Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3705208019 Kopysc Barczyk Krol syndrome en Synonym Active Case sensitive SNOMED CT core
3705209010 Pilodental dysplasia, refractive errors syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3705210017 Pilodental dysplasia, refractive errors syndrome en Synonym Active Case insensitive SNOMED CT core
3705211018 Euhidrotic ectodermal dysplasia en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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