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Descriptor English: Hyalinosis, Systemic
Descriptor Spanish: Hialinosis Sistémica
Descriptor hialinosis sistémica
Scope note: Trastorno autosómico recesivo caracterizado por depósitos de HIALINA en la piel, hueso, tubo digestivo, músculos y glándulas, múltiples nódulos subcutáneos, HIPERTROFIA GINGIVAL, y CONTRACTURAS articulares. Las mutaciones en la proteína 2 de la morfogénesis capilar se asocian con este trastorno.
Descriptor Portuguese: Hialinose Sistêmica
Descriptor French: Hyalinose systémique
Entry term(s): Syndrome de la fibromatose hyaline
Tree number(s): C16.320.850.368
C17.800.827.384
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D057770
Scope note: Autosomal recessive disorder characterized by HYALINE deposition in the skin, bone, gastrointestinal tract, muscles and glands; multiple subcutaneous skin nodules; GINGIVAL HYPERTROPHY; and joint CONTRACTURES. Mutations in the capillary morphogenesis protein-2 are associated with the disorder.
Annotation: do not confuse entry term INFANTILE SYSTEMIC HYALINOSIS with HYALINE MEMBRANE DISEASE
Allowable Qualifiers: BL sang
CF liquide cérébrospinal
CI induit chimiquement
CL classification
CO complications
DG imagerie diagnostique
DH diétothérapie
DI diagnostic
DT traitement médicamenteux
EC économie
EH ethnologie
EM embryologie
EN enzymologie
EP épidémiologie
ET étiologie
GE génétique
HI histoire
IM immunologie
ME métabolisme
MI microbiologie
MO mortalité
NU soins infirmiers
PA anatomopathologie
PC prévention et contrôle
PP physiopathologie
PS parasitologie
PX psychologie
RH rééducation et réadaptation
RT radiothérapie
SU chirurgie
TH thérapie
UR urine
VE médecine vétérinaire
VI virologie
Related: Maladie des membranes hyalines MeSH
Protéinose lipoïde MeSH
DeCS ID: 53998
Unique ID: D057770
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2011/01/01
Date of Entry: 2010/06/25
Revision Date: 2015/06/18
Hyalinose systémique - Preferred
Concept UI M0539002
Preferred term Hyalinose systémique
Entry term(s) Syndrome de la fibromatose hyaline



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