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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): Fibromatosis Hyalinica Multiplex Juvenilis
Fibromatosis Juvenile Hyaline
Fibromatosis Syndrome, Hyaline
Fibromatosis Syndromes, Hyaline
Fibromatosis, Juvenile Hyaline
Hyaline Fibromatosis Juvenile
Hyaline Fibromatosis Syndrome
Hyaline Fibromatosis Syndromes
Hyaline Fibromatosis, Juvenile
Hyalinoses, Infantile Systemic
Hyalinoses, Juvenile
Hyalinoses, Systemic
Hyalinoses, Systemic Juvenile
Hyalinosis, Infantile Systemic
Hyalinosis, Juvenile
Hyalinosis, Systemic Juvenile
Infantile Systemic Hyalinoses
Infantile Systemic Hyalinosis
Juvenile Hyaline Fibromatoses
Juvenile Hyaline Fibromatosis
Juvenile Hyalinoses
Juvenile Hyalinoses, Systemic
Juvenile Hyalinosis
Juvenile Hyalinosis, Systemic
Murray Syndrome
Puretic Syndrome
Puretic Syndromes
Syndrome, Hyaline Fibromatosis
Syndrome, Murray
Syndrome, Puretic
Syndromes, Hyaline Fibromatosis
Syndromes, Puretic
Systemic Hyalinoses
Systemic Hyalinoses, Infantile
Systemic Hyalinosis
Systemic Hyalinosis, Infantile
Systemic Juvenile Hyalinoses
Systemic Juvenile Hyalinosis
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 blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Previous Indexing: Hyalin (1975-2010)
Public MeSH Note: 2011
History Note: 2011
Related: Hyaline Membrane Disease MeSH
Lipoid Proteinosis of Urbach and Wiethe 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
Hyalinosis, Systemic - Preferred
Concept UI M0539002
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.
Preferred term Hyalinosis, Systemic
Entry term(s) Fibromatosis Hyalinica Multiplex Juvenilis
Fibromatosis Juvenile Hyaline
Fibromatosis Syndrome, Hyaline
Fibromatosis Syndromes, Hyaline
Fibromatosis, Juvenile Hyaline
Hyaline Fibromatosis Juvenile
Hyaline Fibromatosis Syndrome
Hyaline Fibromatosis Syndromes
Hyaline Fibromatosis, Juvenile
Hyalinoses, Infantile Systemic
Hyalinoses, Juvenile
Hyalinoses, Systemic
Hyalinoses, Systemic Juvenile
Hyalinosis, Infantile Systemic
Hyalinosis, Juvenile
Hyalinosis, Systemic Juvenile
Infantile Systemic Hyalinoses
Infantile Systemic Hyalinosis
Juvenile Hyaline Fibromatoses
Juvenile Hyaline Fibromatosis
Juvenile Hyalinoses
Juvenile Hyalinoses, Systemic
Juvenile Hyalinosis
Juvenile Hyalinosis, Systemic
Murray Syndrome
Puretic Syndrome
Puretic Syndromes
Syndrome, Hyaline Fibromatosis
Syndrome, Murray
Syndrome, Puretic
Syndromes, Hyaline Fibromatosis
Syndromes, Puretic
Systemic Hyalinoses
Systemic Hyalinoses, Infantile
Systemic Hyalinosis
Systemic Hyalinosis, Infantile
Systemic Juvenile Hyalinoses
Systemic Juvenile Hyalinosis



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