Neurofibromatosis type 1 (Q46687): Difference between revisions

@@ description / pt-br / description / pt-br @@
+Neurofibromatose tipo 1 (NF1) é um transtorno neurocutâneo multissistêmico hereditário, que predispõe ao desenvolvimento de tumores benignos e malignos. Dois dos seguintes critérios são necessários para diagnosticar NF1: seis ou mais manchas "café com leite"; neurofibromas, ou seja, tumores da bainha nervosa periférica manifestando-se como lesões cutâneas, subcutâneas ou plexiformes; sardas em dobras de pele; dois ou mais nódulos de Lisch na íris; glioma de via óptica; displasia óssea específica (afinamento do córtex de ossos longos, displasia da asa do esfenoide), e um parente de primeiro grau afetado
@@ description / en / description / en @@
+Neurofibromatosis type 1 (NF1) is an inherited, multi-system, neurocutaneous disorder that predisposes to the development of benign and malignant tumours. Two of the following criteria are required to diagnose NF1: six or more café au lait patches, neurofibromas, i.e. peripheral nerve sheath tumours manifesting as cutaneous, sub-cutaneous or plexiform lesions, skin-fold freckling, two or more iris Lisch nodules, an optic pathway glioma, a specific bony dysplasia (thinning of the long bone cortex, sphenoid wing dysplasia), an affected first-degree relative.
@@ Property / Canonical URI @@
+https://id.who.int/icd/entity/337970533
@@ Property / Canonical URI: https://id.who.int/icd/entity/337970533 / rank @@
+Normal rank
@@ Property / CURIE @@
+CID11:LD2D.10
@@ Property / CURIE: CID11:LD2D.10 / rank @@
+Normal rank
@@ Property / Canary Token @@
+dki-india-LD2D.10
@@ Property / Canary Token: dki-india-LD2D.10 / rank @@
+Normal rank
@@ Property / Verification Status @@
+Concluído
@@ Property / Verification Status: Concluído / rank @@
+Normal rank
@@ Property / Knowledge Architect @@
+https://pauloleads.com.br/cases-publicos/
+Normal rank
@@ Property / Collection date @@
+August 2026Timestamp +2026-08-13T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
-Timestamp
++2026-08-13T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / Collection date: 13 August 2026 / rank @@
+Normal rank
@@ Property / Linked ICD 10 @@
+GUSTAVO SERGIO CARVALHO
@@ Property / Linked ICD 10: GUSTAVO SERGIO CARVALHO / rank @@
+Normal rank

Latest revision as of 15:27, 13 August 2026

Neurofibromatosis type 1 (NF1) is an inherited, multi-system, neurocutaneous disorder that predisposes to the development of benign and malignant tumours. Two of the following criteria are required to diagnose NF1: six or more café au lait patches, neurofibromas, i.e. peripheral nerve sheath tumours manifesting as cutaneous, sub-cutaneous or plexiform lesions, skin-fold freckling, two or more iris Lisch nodules, an optic pathway glioma, a specific bony dysplasia (thinning of the long bone cortex, sphenoid wing dysplasia), an affected first-degree relative.

Language	Label	Description	Also known as
default for all languages	LD2D.10
English	Neurofibromatosis type 1	Neurofibromatosis type 1 (NF1) is an inherited, multi-system, neurocutaneous disorder that predisposes to the development of benign and malignant tumours. Two of the following criteria are required to diagnose NF1: six or more café au lait patches, neurofibromas, i.e. peripheral nerve sheath tumours manifesting as cutaneous, sub-cutaneous or plexiform lesions, skin-fold freckling, two or more iris Lisch nodules, an optic pathway glioma, a specific bony dysplasia (thinning of the long bone cortex, sphenoid wing dysplasia), an affected first-degree relative.