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722062004: Oculotrichodysplasia (disorder)


Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3330430011 Oculotrichodysplasia (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3330431010 Oculotrichodysplasia en Synonym Active Case insensitive SNOMED CT core
3330432015 Cecatto de Lima Pinheiro syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


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

Description inactivation indicator reference set

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