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723584003: Stern Lubinsky Durrie syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case sensitive (core metadata concept) SNOMED CT core
3425183015 Stern Lubinsky Durrie syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3425184014 Corneo-dermato-osseous syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3425185010 Corneodermatoosseous syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Stern Lubinsky Durrie syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Stern Lubinsky Durrie syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Stern Lubinsky Durrie syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Stern Lubinsky Durrie syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Stern Lubinsky Durrie syndrome (disorder) est un(e) (attribut) Congenital anomaly of cornea false Inferred relationship Some
Stern Lubinsky Durrie syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Stern Lubinsky Durrie syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Stern Lubinsky Durrie syndrome (disorder) localisation d'une constatation (attribut) structure de la peau true Inferred relationship Some 2
Stern Lubinsky Durrie syndrome (disorder) localisation d'une constatation (attribut) Ectoderm structure true Inferred relationship Some 1
Stern Lubinsky Durrie syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 1
Stern Lubinsky Durrie syndrome (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 1
Stern Lubinsky Durrie syndrome (disorder) est un(e) (attribut) Digestive system hereditary disorder false Inferred relationship Some
Stern Lubinsky Durrie syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 5
Stern Lubinsky Durrie syndrome (disorder) est un(e) (attribut) Genetic disorder of nail (disorder) true Inferred relationship Some
Stern Lubinsky Durrie syndrome (disorder) localisation d'une constatation (attribut) Nail unit structure true Inferred relationship Some 4
Stern Lubinsky Durrie syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Stern Lubinsky Durrie syndrome (disorder) est un(e) (attribut) Corneal epithelial degeneration true Inferred relationship Some
Stern Lubinsky Durrie syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 4
Stern Lubinsky Durrie syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Stern Lubinsky Durrie syndrome (disorder) localisation d'une constatation (attribut) dent (structure corporelle) true Inferred relationship Some 5
Stern Lubinsky Durrie syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Stern Lubinsky Durrie syndrome (disorder) est un(e) (attribut) Congenital dystrophy of cornea (disorder) true Inferred relationship Some
Stern Lubinsky Durrie syndrome (disorder) est un(e) (attribut) Hereditary disorder of tooth true Inferred relationship Some
Stern Lubinsky Durrie syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Stern Lubinsky Durrie syndrome (disorder) est un(e) (attribut) Hereditary corneal dystrophy true Inferred relationship Some
Stern Lubinsky Durrie syndrome (disorder) est un(e) (attribut) Ectodermal dysplasia with tooth-nail defects true Inferred relationship Some
Stern Lubinsky Durrie syndrome (disorder) est un(e) (attribut) Corneal epithelium finding false Inferred relationship Some
Stern Lubinsky Durrie syndrome (disorder) est un(e) (attribut) Hereditary disorder of the integument true Inferred relationship Some
Stern Lubinsky Durrie syndrome (disorder) est un(e) (attribut) Dystrophy of anterior cornea (disorder) true Inferred relationship Some
Stern Lubinsky Durrie syndrome (disorder) morphologie associée (attribut) Dystrophy (morphologic abnormality) true Inferred relationship Some 3
Stern Lubinsky Durrie syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Stern Lubinsky Durrie syndrome (disorder) localisation d'une constatation (attribut) Structure of corneal epithelium true Inferred relationship Some 3
Stern Lubinsky Durrie syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Stern Lubinsky Durrie syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 5
Stern Lubinsky Durrie syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 5
Stern Lubinsky Durrie syndrome (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 5
Stern Lubinsky Durrie syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 4
Stern Lubinsky Durrie syndrome (disorder) localisation d'une constatation (attribut) Ectoderm structure false Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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