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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
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
544591000274118 Ektodermale euhidrotische Dysplasie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
574871000274119 Syndrom mit pilo-dentaler Dysplasie und Refranktionsanomalien de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
906081000172110 dysplasie ectodermique euhidrotique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1007351000172110 dysplasie pilo-dentaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
906081000172110 dysplasie ectodermique euhidrotique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1007351000172110 dysplasie pilo-dentaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
544591000274118 Ektodermale euhidrotische Dysplasie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
574871000274119 Syndrom mit pilo-dentaler Dysplasie und Refranktionsanomalien de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3409661001000112 Dysplasie, pilo-dentale - Refraktionsanomalien 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
Pilodental dysplasia, refractive errors syndrome Is a Congenital anomaly of tooth (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Pilodental dysplasia, refractive errors syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Pilodental dysplasia, refractive errors syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Pilodental dysplasia, refractive errors syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Pilodental dysplasia, refractive errors syndrome Is a Ectodermal dysplasia with hair-tooth defects true Inferred relationship Existential restriction modifier (core metadata concept)
Pilodental dysplasia, refractive errors syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Pilodental dysplasia, refractive errors syndrome Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Pilodental dysplasia, refractive errors syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Pilodental dysplasia, refractive errors syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Pilodental dysplasia, refractive errors syndrome Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Pilodental dysplasia, refractive errors syndrome Is a Digestive system hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Pilodental dysplasia, refractive errors syndrome Is a Congenital anomaly of hair false Inferred relationship Existential restriction modifier (core metadata concept)
Pilodental dysplasia, refractive errors syndrome Is a Disorder of refraction true Inferred relationship Existential restriction modifier (core metadata concept)
Pilodental dysplasia, refractive errors syndrome Finding site The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways true Inferred relationship Existential restriction modifier (core metadata concept) 3
Pilodental dysplasia, refractive errors syndrome Finding site Hair structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Pilodental dysplasia, refractive errors syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Pilodental dysplasia, refractive errors syndrome Finding site Tooth structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Pilodental dysplasia, refractive errors syndrome Finding site Ectoderm structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Pilodental dysplasia, refractive errors syndrome Finding site Ectoderm structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Pilodental dysplasia, refractive errors syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 4
Pilodental dysplasia, refractive errors syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Pilodental dysplasia, refractive errors syndrome Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Pilodental dysplasia, refractive errors syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Pilodental dysplasia, refractive errors syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Pilodental dysplasia, refractive errors syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Pilodental dysplasia, refractive errors syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Pilodental dysplasia, refractive errors syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Pilodental dysplasia, refractive errors syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 5
Pilodental dysplasia, refractive errors syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Pilodental dysplasia, refractive errors syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Pilodental dysplasia, refractive errors syndrome Is a Hereditary disorder of tooth true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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