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1208340009: Neurofibromatosis type 6 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4963728016 Multiple café-au-lait syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4963729012 NF6 - neurofibromatosis type 6 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4963730019 Neurofibromatosis type 6 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4963731015 Familial café-au-lait spots en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4963732010 Neurofibromatosis type 6 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4963733017 Multiple café-au-lait spots en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5170015015 Familial CALMs (café-au-lait macules) isolated en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5170016019 Familial isolated café-au-lait spots en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5170017011 Familial isolated café-au-lait macules en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5399808012 Neurofibromatosis type 6 (NF6), also referred as café-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several café-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399809016 Neurofibromatosis type 6 (NF6), also referred as café-au-lait spots syndrome, is a cutaneous disorder characterised by the presence of several café-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4963728016 Multiple café-au-lait syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4963729012 NF6 - neurofibromatosis type 6 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4963730019 Neurofibromatosis type 6 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4963731015 Familial café-au-lait spots en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4963732010 Neurofibromatosis type 6 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4963733017 Multiple café-au-lait spots en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5170015015 Familial CALMs (café-au-lait macules) isolated en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5170016019 Familial isolated café-au-lait spots en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5170017011 Familial isolated café-au-lait macules en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4963734011 A cutaneous disorder with characteristics of the presence of several café-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder. Prevalence is unknown, but the disease appears to be extremely rare. The macules may appear in infancy, but usually they are detected after 2 years of age. Close linkage to the NF1 gene (17q11.2) has been reported in some cases. Transmission is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399808012 Neurofibromatosis type 6 (NF6), also referred as café-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several café-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399809016 Neurofibromatosis type 6 (NF6), also referred as café-au-lait spots syndrome, is a cutaneous disorder characterised by the presence of several café-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3442921001000110 Neurofibromatose Typ 6 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3442921001000110 Neurofibromatose Typ 6 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
Neurofibromatosis type 6 (NF6), also referred as café-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several café-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder. Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Neurofibromatosis type 6 (NF6), also referred as café-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several café-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder. Is a Hyperpigmentation of skin true Inferred relationship Existential restriction modifier (core metadata concept)
Neurofibromatosis type 6 (NF6), also referred as café-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several café-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder. Is a Genetic disorder of skin pigmentation (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Neurofibromatosis type 6 (NF6), also referred as café-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several café-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder. Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Neurofibromatosis type 6 (NF6), also referred as café-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several café-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder. Associated morphology Hyperpigmentation (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Neurofibromatosis type 6 (NF6), also referred as café-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several café-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder. Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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