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722062004: Oculotrichodysplasia (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
3330430011 Oculotrichodysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330431010 Oculotrichodysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330432015 Cecatto de Lima Pinheiro syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402811014 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402812019 A rare ectodermal dysplasia syndrome characterised by bilateral retinitis pigmentosa, trichodysplasia (generalised hypotrichosis, structural changes), dental anomalies, onychodysplasia, and dry and scaly skin. There have been no further descriptions in the literature since 1988. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3330430011 Oculotrichodysplasia (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3330430011 Oculotrichodysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330431010 Oculotrichodysplasia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3330431010 Oculotrichodysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330432015 Cecatto de Lima Pinheiro syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3330433013 This disease has characteristics of retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. It has been described in two siblings (brother and sister) born to first cousin parents. Transmission appears to be autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402811014 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402812019 A rare ectodermal dysplasia syndrome characterised by bilateral retinitis pigmentosa, trichodysplasia (generalised hypotrichosis, structural changes), dental anomalies, onychodysplasia, and dry and scaly skin. There have been no further descriptions in the literature since 1988. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
531151000274116 Cecato-de-Lima-Pinheiro-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3449741001000110 Okulo-tricho-Dysplasie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
893611000172110 syndrome de Cecato de Lima-Pinheiro fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
934221000172117 oculo-tricho-dysplasie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
893611000172110 syndrome de Cecato de Lima-Pinheiro fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
934221000172117 oculo-tricho-dysplasie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
531151000274116 Cecato-de-Lima-Pinheiro-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3449741001000110 Okulo-tricho-Dysplasie 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
Oculotrichodysplasia Is a Retinitis pigmentosa (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Oculotrichodysplasia Is a Autosomal recessive hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Oculotrichodysplasia Is a Ectodermal dysplasia with hair-tooth-nail defects true Inferred relationship Existential restriction modifier (core metadata concept)
Oculotrichodysplasia Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Oculotrichodysplasia Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Oculotrichodysplasia Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Oculotrichodysplasia Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Oculotrichodysplasia Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
Oculotrichodysplasia Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Oculotrichodysplasia Associated morphology Dystrophy false Inferred relationship Existential restriction modifier (core metadata concept) 4
Oculotrichodysplasia Finding site Retinal structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Oculotrichodysplasia Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 5
Oculotrichodysplasia Finding site Ectoderm structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Oculotrichodysplasia Is a Autosomal recessive retinitis pigmentosa true Inferred relationship Existential restriction modifier (core metadata concept)
Oculotrichodysplasia Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Oculotrichodysplasia Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Oculotrichodysplasia Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Oculotrichodysplasia Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Oculotrichodysplasia Finding site Retinal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Oculotrichodysplasia Is a Congenital anomaly of retina true Inferred relationship Existential restriction modifier (core metadata concept)
Oculotrichodysplasia Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Oculotrichodysplasia Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Oculotrichodysplasia Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Oculotrichodysplasia Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Oculotrichodysplasia Finding site Ectoderm structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Oculotrichodysplasia Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 2
Oculotrichodysplasia Finding site Hair structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Oculotrichodysplasia Is a Digestive system hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Oculotrichodysplasia Finding site Tooth structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Oculotrichodysplasia Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Oculotrichodysplasia Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Oculotrichodysplasia Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Oculotrichodysplasia Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 5
Oculotrichodysplasia Finding site Nail unit structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Oculotrichodysplasia Is a Genetic disorder of nail (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Oculotrichodysplasia Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Oculotrichodysplasia 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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