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721904001: Rombo syndrome (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
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
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
892991000172119 syndrome de Rombo fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Rombo syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Rombo syndrome (disorder) Is a Hypotrichosis true Inferred relationship Some
Rombo syndrome (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Rombo syndrome (disorder) Is a Atrophoderma false Inferred relationship Some
Rombo syndrome (disorder) Is a Hereditary cancer-predisposing syndrome true Inferred relationship Some
Rombo syndrome (disorder) Finding site Hair structure (body structure) false Inferred relationship Some
Rombo syndrome (disorder) Associated morphology Atrophy true Inferred relationship Some 2
Rombo syndrome (disorder) Finding site Skin structure true Inferred relationship Some 2
Rombo syndrome (disorder) Associated morphology Growth alteration true Inferred relationship Some 1
Rombo syndrome (disorder) Finding site Hair structure (body structure) true Inferred relationship Some 1
Rombo syndrome (disorder) Is a Atrophic condition of skin (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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