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763714006: Familial multiple nevi flammei (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
3643452014 Familial multiple naevi flammei en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3643453016 Familial multiple port-wine stains en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3643454010 Familial multiple nevi flammei en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5404151013 Familial multiple nevi flammei is a rare, genetic capillary malformation disorder 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404152018 Familial multiple naevi flammei is a rare, genetic capillary malformation disorder 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3643451019 Familial multiple nevi flammei (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3643452014 Familial multiple naevi flammei en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3643453016 Familial multiple port-wine stains en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3643454010 Familial multiple nevi flammei en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5404151013 Familial multiple nevi flammei is a rare, genetic capillary malformation disorder 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404152018 Familial multiple naevi flammei is a rare, genetic capillary malformation disorder 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3435171001000116 Familiäre multiple Naevi flammei de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
944191000172110 naevus en tache de vin multiples familiaux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1010031000172119 naevus flammeus multiples familiaux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
944191000172110 naevus en tache de vin multiples familiaux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1010031000172119 naevus flammeus multiples familiaux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3435171001000116 Familiäre multiple Naevi flammei de 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
Familial multiple nevi flammei Is a Familial disease true Inferred relationship Existential restriction modifier (core metadata concept)
Familial multiple nevi flammei Is a Port-wine stain of skin (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Familial multiple nevi flammei Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial multiple nevi flammei Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial multiple nevi flammei Finding site Structure of capillary of skin true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial multiple nevi flammei Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial multiple nevi flammei Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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