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723584003: Stern Lubinsky Durrie syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3425182013 Stern Lubinsky Durrie syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core
3425183015 Stern Lubinsky Durrie syndrome en Synonym Active Case sensitive SNOMED CT core
3425184014 Corneo-dermato-osseous syndrome en Synonym Active Case insensitive SNOMED CT core
3425185010 Corneodermatoosseous syndrome en Synonym Active Case insensitive SNOMED CT core
3425186011 Syndrome with characteristics of corneal epithelial changes (associated with photophobia and burning and watering of the eyes), diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, dental problems and premature birth. It has been described in seven individuals from three generations of one family. It is transmitted as an autosomal dominant trait. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Stern Lubinsky Durrie syndrome Occurrence Congenital false Inferred relationship Some 2
Stern Lubinsky Durrie syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Stern Lubinsky Durrie syndrome Occurrence Congenital true Inferred relationship Some 1
Stern Lubinsky Durrie syndrome Pathological process Pathological developmental process false Inferred relationship Some 2
Stern Lubinsky Durrie syndrome Is a Congenital anomaly of cornea false Inferred relationship Some
Stern Lubinsky Durrie syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Stern Lubinsky Durrie syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Some 2
Stern Lubinsky Durrie syndrome Finding site Skin structure false Inferred relationship Some 2
Stern Lubinsky Durrie syndrome Finding site Ectoderm structure true Inferred relationship Some 1
Stern Lubinsky Durrie syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 1
Stern Lubinsky Durrie syndrome Associated morphology Dysplasia true Inferred relationship Some 1
Stern Lubinsky Durrie syndrome Is a Digestive system hereditary disorder false Inferred relationship Some
Stern Lubinsky Durrie syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 5
Stern Lubinsky Durrie syndrome Is a Genetic disorder of nail true Inferred relationship Some
Stern Lubinsky Durrie syndrome Finding site Nail unit structure true Inferred relationship Some 4
Stern Lubinsky Durrie syndrome Pathological process Pathological developmental process true Inferred relationship Some 4
Stern Lubinsky Durrie syndrome Is a Corneal epithelial degeneration true Inferred relationship Some
Stern Lubinsky Durrie syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 4
Stern Lubinsky Durrie syndrome Pathological process Pathological developmental process true Inferred relationship Some 5
Stern Lubinsky Durrie syndrome Finding site Tooth structure true Inferred relationship Some 5
Stern Lubinsky Durrie syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Stern Lubinsky Durrie syndrome Is a Congenital corneal dystrophy true Inferred relationship Some
Stern Lubinsky Durrie syndrome Is a Hereditary disorder of tooth true Inferred relationship Some
Stern Lubinsky Durrie syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Stern Lubinsky Durrie syndrome Is a Hereditary corneal dystrophy true Inferred relationship Some
Stern Lubinsky Durrie syndrome Is a Ectodermal dysplasia with tooth-nail defects true Inferred relationship Some
Stern Lubinsky Durrie syndrome Is a Corneal epithelium finding false Inferred relationship Some
Stern Lubinsky Durrie syndrome Is a Hereditary disorder of the integument true Inferred relationship Some
Stern Lubinsky Durrie syndrome Is a Dystrophy of anterior cornea true Inferred relationship Some
Stern Lubinsky Durrie syndrome Associated morphology Dystrophy true Inferred relationship Some 3
Stern Lubinsky Durrie syndrome Occurrence Congenital true Inferred relationship Some 3
Stern Lubinsky Durrie syndrome Finding site Structure of corneal epithelium true Inferred relationship Some 3
Stern Lubinsky Durrie syndrome Occurrence Congenital true Inferred relationship Some 4
Stern Lubinsky Durrie syndrome Occurrence Congenital true Inferred relationship Some 5
Stern Lubinsky Durrie syndrome Associated morphology Developmental abnormality false Inferred relationship Some 5
Stern Lubinsky Durrie syndrome Finding site Skin structure false Inferred relationship Some 5
Stern Lubinsky Durrie syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 4
Stern Lubinsky Durrie syndrome Finding site Ectoderm structure false Inferred relationship Some 4

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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