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721904001: syndrome de Rombo (trouble)


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
3326812012 Rombo syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3326813019 Rombo syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
757801000241119 syndrome de Rombo (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
892991000172119 syndrome de Rombo fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3326814013 Rombo syndrome has characteristics of vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, and peripheral vasodilation with cyanosis and basal cell carcinomas. It has been described in four generations of one family and in two additional sporadic cases. The skin lesions become visible between 7 and 10 years of age and are most pronounced on the face. Basal cell carcinomas are frequent and develop at around 35 years of age. 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
Rombo syndrome (disorder) morphologie associée (attribut) modification de la croissance true Inferred relationship Some 1
Rombo syndrome (disorder) localisation d'une constatation (attribut) Hair structure (body structure) true Inferred relationship Some 1
Rombo syndrome (disorder) est un(e) (attribut) état atrophique de la peau (trouble) true Inferred relationship Some
Rombo syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Rombo syndrome (disorder) est un(e) (attribut) Hypotrichosis (disorder) true Inferred relationship Some
Rombo syndrome (disorder) est un(e) (attribut) Hereditary disorder of the integument true Inferred relationship Some
Rombo syndrome (disorder) est un(e) (attribut) Atrophoderma (disorder) false Inferred relationship Some
Rombo syndrome (disorder) est un(e) (attribut) syndrome familial avec prédisposition aux cancers (trouble) true Inferred relationship Some
Rombo syndrome (disorder) localisation d'une constatation (attribut) Hair structure (body structure) false Inferred relationship Some
Rombo syndrome (disorder) morphologie associée (attribut) atrophie (anomalie morphologique) true Inferred relationship Some 2
Rombo syndrome (disorder) localisation d'une constatation (attribut) structure de la peau true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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