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763714006: Familial multiple nevi flammei (disorder)


Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3643451019 Familial multiple nevi flammei (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3643452014 Familial multiple naevi flammei en Synonym Active Case insensitive SNOMED CT core
3643453016 Familial multiple port-wine stains en Synonym Active Case insensitive SNOMED CT core
3643454010 Familial multiple nevi flammei en Synonym Active Case insensitive SNOMED CT core
3643455011 A rare genetic capillary malformation characterised by dark red to purple birthmarks which manifest as flat, sharply circumscribed cutaneous lesions, typically situated in the head and neck region, in various members of a single family. The lesions grow proportionally with the individual, change in colour and often thicken with age. There is evidence that congenital capillary malformations can be caused by somatic mosaic mutation in the GNAQ gene on chromosome 9q21. en Definition Active Case sensitive SNOMED CT core
3643456012 A rare genetic capillary malformation characterized by dark red to purple birthmarks which manifest as flat, sharply circumscribed cutaneous lesions, typically situated in the head and neck region, in various members of a single family. The lesions grow proportionally with the individual, change in color and often thicken with age. There is evidence that congenital capillary malformations can be caused by somatic mosaic mutation in the GNAQ gene on chromosome 9q21. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Familial multiple naevi flammei Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Familial multiple naevi flammei Pathological process Pathological developmental process true Inferred relationship Some 1
Familial multiple naevi flammei Is a Familial disease true Inferred relationship Some
Familial multiple naevi flammei Is a Port-wine stain of skin true Inferred relationship Some
Familial multiple naevi flammei Associated morphology Developmental abnormality false Inferred relationship Some 1
Familial multiple naevi flammei Occurrence Congenital true Inferred relationship Some 1
Familial multiple naevi flammei Finding site Structure of capillary of skin true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

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