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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
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
893611000172110 syndrome de Cecato de Lima-Pinheiro fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
934221000172117 oculo-tricho-dysplasie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
976721000172117 oculotrichodysplasie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
982351000172117 syndroom van Cecato de Lima-Pinheiro nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Oculotrichodysplasia (disorder) Is a Retinitis pigmentosa false Inferred relationship Some
Oculotrichodysplasia (disorder) Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Oculotrichodysplasia (disorder) Is a Ectodermal dysplasia with hair-tooth-nail defects true Inferred relationship Some
Oculotrichodysplasia (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Oculotrichodysplasia (disorder) Occurrence Congenital true Inferred relationship Some 3
Oculotrichodysplasia (disorder) Occurrence Congenital true Inferred relationship Some 4
Oculotrichodysplasia (disorder) Occurrence Congenital true Inferred relationship Some 5
Oculotrichodysplasia (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 3
Oculotrichodysplasia (disorder) Finding site Skin structure false Inferred relationship Some 3
Oculotrichodysplasia (disorder) Associated morphology Dystrophy false Inferred relationship Some 4
Oculotrichodysplasia (disorder) Finding site Retinal structure false Inferred relationship Some 4
Oculotrichodysplasia (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 5
Oculotrichodysplasia (disorder) Finding site Ectoderm structure false Inferred relationship Some 5
Oculotrichodysplasia (disorder) Is a Autosomal recessive retinitis pigmentosa true Inferred relationship Some
Oculotrichodysplasia (disorder) Occurrence Congenital true Inferred relationship Some 2
Oculotrichodysplasia (disorder) Occurrence Congenital true Inferred relationship Some 1
Oculotrichodysplasia (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Oculotrichodysplasia (disorder) Associated morphology Dystrophy true Inferred relationship Some 1
Oculotrichodysplasia (disorder) Finding site Retinal structure true Inferred relationship Some 1
Oculotrichodysplasia (disorder) Is a Congenital anomaly of retina true Inferred relationship Some
Oculotrichodysplasia (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Oculotrichodysplasia (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Oculotrichodysplasia (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 2
Oculotrichodysplasia (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Oculotrichodysplasia (disorder) Finding site Ectoderm structure true Inferred relationship Some 2
Oculotrichodysplasia (disorder) Associated morphology Dysplasia true Inferred relationship Some 2
Oculotrichodysplasia (disorder) Finding site Hair structure (body structure) true Inferred relationship Some 5
Oculotrichodysplasia (disorder) Is a Digestive system hereditary disorder (disorder) false Inferred relationship Some
Oculotrichodysplasia (disorder) Finding site Tooth structure true Inferred relationship Some 4
Oculotrichodysplasia (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Oculotrichodysplasia (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Oculotrichodysplasia (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 4
Oculotrichodysplasia (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 5
Oculotrichodysplasia (disorder) Finding site Nail unit structure true Inferred relationship Some 3
Oculotrichodysplasia (disorder) Is a Genetic disorder of nail (disorder) true Inferred relationship Some
Oculotrichodysplasia (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Oculotrichodysplasia (disorder) Is a Hereditary disorder of tooth true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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