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721904001: Rombo syndrome (disorder)


Status: current, Primitive. 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 Case sensitive SNOMED CT core
3326813019 Rombo syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


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

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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