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Necrose avascular secundária
ORPHA:399169DOENÇA RARA

Necrose é o estado de morte de um tecido ou parte dele em um organismo vivo. A necrose é a morte de um grupo de células, ocorrendo a perda da permeabilidade, possui resposta inflamatória, células ficam tumeficadas. A necrose é sempre um processo patológico e desordenado de morte celular causado por fatores que levam à lesão celular irreversível e consequente morte celular. Alguns exemplos destes fatores são hipóxia/isquemia, agentes químicos tóxicos ou agentes biológicos que causem dano direto ou desencadeiem resposta imunológica danosa, como fungos, bactérias e vírus. A necrose pode ser diferenciada em vários tipos, e cada um está associado a determinado tipo de agente lesivo e determinadas características teciduais após a necrose.

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Introdução

O que você precisa saber de cara

📋

Nécrose avascular secundária é uma condição rara caracterizada pela morte de tecido ósseo devido à interrupção do suprimento sanguíneo. Manifesta-se com dor, sangramento gengival, anorexia, osteoporose e atraso de crescimento, podendo levar a complicações neurológicas e articulares.

Publicações científicas
13 artigos
Último publicado: 2026
🏥
SUS: Sem cobertura SUSScore: 0%
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🩸
Sangue
17 sintomas
🦴
Ossos e articulações
10 sintomas
🫃
Digestivo
8 sintomas
👁️
Olhos
5 sintomas
🫁
Pulmão
5 sintomas
🧠
Neurológico
4 sintomas

+ 29 sintomas em outras categorias

Características mais comuns

Dor na virilha
Sangramento gengival
Anorexia
Osteoporose
Aumento do nível circulante de anticorpos
Neuropatia sensorimotora
87sintomas
Sem dados (87)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 87 características clínicas mais associadas, ordenadas por frequência.

Dor na virilhaGroin pain
Sangramento gengivalGingival bleeding
Anorexia
OsteoporoseOsteoporosis
Aumento do nível circulante de anticorposIncreased circulating antibody level

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2025
Total histórico13PubMed
Últimos 10 anos6publicações
Pico20212 papers
Linha do tempo
2025Hoje · 2026🧪 2000Primeiro ensaio clínico
Publicações por ano (últimos 10 anos)

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Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

4 genes identificados com associação a esta condição.

GBA1Lysosomal acid glucosylceramidaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Glucosylceramidase that catalyzes, within the lysosomal compartment, the hydrolysis of glucosylceramides/GlcCers (such as beta-D-glucosyl-(1<->1')-N-acylsphing-4-enine) into free ceramides (such as N-acylsphing-4-enine) and glucose (PubMed:15916907, PubMed:24211208, PubMed:32144204, PubMed:39395789, PubMed:9201993). Plays a central role in the degradation of complex lipids and the turnover of cellular membranes (PubMed:27378698). Through the production of ceramides, participates in the PKC-activ

LOCALIZAÇÃO

Lysosome membrane

VIAS BIOLÓGICAS (1)
Glycosphingolipid catabolism
MECANISMO DE DOENÇA

Gaucher disease

An autosomal recessive lysosomal storage disease due to deficient activity of lysosomal beta-glucocerebrosidase, and characterized by accumulation of glucosylceramide in the reticulo-endothelial system. GD is a multisystem disease historically divided into three main subtypes on the basis of the presence of neurologic involvement, age at onset and progression rate: type 1 is the non-neuropathic form, type 2 is the acute neuropathic form with early onset and rapid neurologic deterioration, type 3 is the chronic neuropathic form with slow progression of neurologic features. GD shows a marked phenotypic diversity ranging from adult asymptomatic forms, at the mild end, to perinatal lethal forms at the severe end of the disease spectrum. Formal diagnosis of Gaucher disease is based on the measurement of glucocerebrosidase levels in circulating leukocytes and molecular genetic analysis.

OUTRAS DOENÇAS (7)
Gaucher disease type IIGaucher disease perinatal lethalGaucher disease-ophthalmoplegia-cardiovascular calcification syndromeGaucher disease type I
HGNC:4177UniProt:P04062
SCARB2Lysosome membrane protein 2Candidate gene tested inTolerante
FUNÇÃO

Acts as a lysosomal receptor for glucosylceramidase (GBA1) targeting (Microbial infection) Acts as a receptor for enterovirus 71

LOCALIZAÇÃO

Lysosome membrane

VIAS BIOLÓGICAS (1)
Clathrin-mediated endocytosis
MECANISMO DE DOENÇA

Epilepsy, progressive myoclonic 4, with or without renal failure

A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM4 is an autosomal recessive form associated with renal failure in some cases. Cognitive function is preserved.

EXPRESSÃO TECIDUAL(Ubíquo)
Brain Spinal cord cervical c-1
119.7 TPM
Fibroblastos
117.7 TPM
Pulmão
114.5 TPM
Cervix Endocervix
105.3 TPM
Artéria coronária
99.7 TPM
OUTRAS DOENÇAS (3)
action myoclonus-renal failure syndromeGaucher disease type IUnverricht-Lundborg syndrome
HGNC:1665UniProt:Q14108
HRGHistidine-rich glycoproteinDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Plasma glycoprotein that binds a number of ligands such as heme, heparin, heparan sulfate, thrombospondin, plasminogen, and divalent metal ions. Binds heparin and heparin/glycosaminoglycans in a zinc-dependent manner. Binds heparan sulfate on the surface of liver, lung, kidney and heart endothelial cells. Binds to N-sulfated polysaccharide chains on the surface of liver endothelial cells. Inhibits rosette formation. Acts as an adapter protein and is implicated in regulating many processes such a

LOCALIZAÇÃO

Secreted

VIAS BIOLÓGICAS (1)
Dissolution of Fibrin Clot
MECANISMO DE DOENÇA

Thrombophilia due to histidine-rich glycoprotein deficiency

A hemostatic disorder characterized by a tendency to thrombosis.

EXPRESSÃO TECIDUAL(Tecido-específico)
Fígado
596.2 TPM
Rim - Medula
10.1 TPM
Rim - Córtex
4.9 TPM
Testículo
0.3 TPM
Skin Sun Exposed Lower leg
0.2 TPM
OUTRAS DOENÇAS (1)
hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
HGNC:5181UniProt:P04196
SERPINC1Antithrombin-IIIDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Most important serine protease inhibitor in plasma that regulates the blood coagulation cascade (PubMed:15140129, PubMed:15853774). AT-III inhibits thrombin, matriptase-3/TMPRSS7, as well as factors IXa, Xa and XIa (PubMed:15140129). Its inhibitory activity is greatly enhanced in the presence of heparin

LOCALIZAÇÃO

Secreted, extracellular space

VIAS BIOLÓGICAS (2)
Post-translational protein phosphorylationRegulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
MECANISMO DE DOENÇA

Antithrombin III deficiency

An important risk factor for hereditary thrombophilia, a hemostatic disorder characterized by a tendency to recurrent thrombosis. Antithrombin-III deficiency is classified into 4 types. Type I: characterized by a 50% decrease in antigenic and functional levels. Type II: has defects affecting the thrombin-binding domain. Type III: alteration of the heparin-binding domain. Plasma AT-III antigen levels are normal in type II and III. Type IV: consists of miscellaneous group of unclassifiable mutations.

EXPRESSÃO TECIDUAL(Tecido-específico)
Fígado
1054.4 TPM
Testículo
1.0 TPM
Rim - Córtex
0.8 TPM
Sangue
0.5 TPM
Baço
0.5 TPM
OUTRAS DOENÇAS (1)
hereditary antithrombin deficiency
HGNC:775UniProt:P01008

Variantes genéticas (ClinVar)

535 variantes patogênicas registradas no ClinVar.

🧬 GBA1: NM_000157.4(GBA1):c.518C>T (p.Thr173Ile) ()
🧬 GBA1: NC_000001.10:g.(?_155204242)_(155209869_155210420)del ()
🧬 GBA1: NM_000157.4(GBA1):c.745del (p.Ala249fs) ()
🧬 GBA1: GRCh37/hg19 1q21.1-44(chr1:143932350-249224684)x3 ()
🧬 GBA1: GRCh37/hg19 1q21.3-22(chr1:154822196-156304685)x3 ()
Ver todas no ClinVar

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
·Pré-clínico5
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 5 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Necrose avascular secundária

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Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

🟢 Recrutando agora

2 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

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Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
7 papers (10 anos)
#1

Assessment, diagnostic criteria, and outcome measures for non-femoral head lower limb avascular necrosis in children and adolescents: a scoping review.

JBMR plus2025 Sep

Avascular necrosis is a condition that results from disruption of the blood supply to bone. It can develop idiopathically or secondary to disease or corticosteroid use. To facilitate consistent clinical and research practice, this review aimed to identify methods used to assess, diagnose, and determine outcomes of non-femoral head (non-FH) lower limb avascular necrosis in children and adolescents. We conducted a scoping review up to January 2024, searching Ovid Medline, Embase, CINAHL, and Scopus databases. Studies were included if they had 10 or more individuals aged 0-17 yr with non-FH lower limb avascular necrosis, and included assessment, diagnostic criteria, or outcome measures. Measures identified were grouped according to the International Classification of Functioning, Disability, and Health framework of impairments of body function and structure, activity limitations, and participation restrictions. Following full-text screening, 31 studies met the inclusion criteria: 24 of these studies were retrospective (77%). Twenty-three studies involved secondary avascular necrosis (74%) and 8 studies involved primary avascular necrosis (26%). MRI and radiographs were most frequently used for diagnosis. Impairments were predominantly assessed via patient report, and use of validated measures was limited. There was also limited consideration of activity limitations and participation restrictions in both assessment and outcome measures. Where present, these were patient reported. The findings highlight a strong focus on impairments despite a need to consider the conditions impact on activity limitations and participation restrictions. Obtaining consensus on assessments and outcome measures, with increased use of validated measures to improve rigor, would facilitate collation of results in future research.

#2

[Translated article] Clinical results of total hip arthroplasty assisted by robotic arm in Spain: Preliminary study.

Revista espanola de cirugia ortopedica y traumatologia2024

Clinical, radiological and functional results of the first Spanish series of patients undergoing total hip arthroplasty assisted by Mako® (Stryker) robotic arm at the Hospital Clínico San Carlos (HCSC) in Madrid. Prospective and descriptive study analyzing the first 25 patients who underwent robotic-assisted THA at the HCSC, with a minimum follow-up of 4 months. Demographics, imaging studies (Mako® processing, Rx and CT), clinical parameters, functionality (modified Harris) and associated complications were evaluated. Average age was 67.2 years (min 47, max 88), being 56% male population sample. 88% involves primary coxarthrosis, 4% post-traumatic coxarthrosis, 4% secondary avascular necrosis and 4% secondary femoroacetabular impingement. Average surgery time was 116.9min (min 92, max 150). The average time of the first five surgeries was 122.6min, and, regarding the last five interventions, it was 108.2min. Found medical intraoperative complications were four intraoperative markers loss. Average admission time was 4.4days (min 3, max 7), with an average postoperative haemoglobin decrease of 3.08±1.08g/dl, requiring a transfusion in 12% of the cases. Three medical complications have been registered in the meantime of the admission, with a relevant case of a confusional syndrome and a fall, which resulted in a non-displaced AG1 periprosthetic fracture. The analysis of the positioning of registered implants with Mako® system shows 40.55±1.53 acetabular inclination degrees and 12.2±3.6 acetabular anteversion degrees. The postoperative image study carried out on patients, are consistent with Mako® results, as it shows an acetabular inclination of 41.2±1.7 in Rx, as well as acetabular anteversion of 16±4.6 in CT. Hip length variance ranges depending on preoperative values of 3.91mm (SD: 3.9; min -12, max 3) to 1.29mm (SD: 1.96) after surgery registered with Mako®, with an increase of an average hip length of 5.64mm (SD: 3.35). Rx simple study results show a postoperative difference between both hips of 0.5±3.08mm, which is consistent with Mako® results. Native femoral offset was stable after surgery with a showing difference both pre and post operative of the intervened hip of 0.1mm (SD: 3.7), registered with Mako®. Preoperatory modified Harris punctuation was 41.6±13.3, improving to postoperative values of 74.6±9.7 after four months since the surgery. No complications were registered in immediate postoperative (4 months). Total hip arthroplasty robot-assisted achieves an adequate precision and repeatability of the implant positioning and the postoperative hip dysmetry without showing an increase of associated complications to the technique applied. Surgery time, complications and functional results in a short-time period are similar to conventional techniques applied to great series previously published.

#3

Clinical results of total hip arthroplasty assisted by robotic arm in Spain: Preliminary study.

Revista espanola de cirugia ortopedica y traumatologia2024

Clinical, radiological and functional results of the first Spanish series of patients undergoing total hip arthroplasty assisted by Mako® (Stryker) robotic arm at the Hospital Clínico San Carlos (HCSC) in Madrid. Prospective and descriptive study analyzing the first 25 patients who underwent robotic-assisted THA at the HCSC, with a minimum follow-up of 4months. Demographics, imaging studies (Mako® processing, Rx and CT), clinical parameters, functionality (modified Harris) and associated complications were evaluated. Average age was 67.2years (min 47, max 88), being 56% male population sample. 88% involves primary coxarthrosis, 4% post-traumatic coxarthrosis, 4% secondary avascular necrosis and 4% secondary femoroacetabular impingement. Average surgery time was 116.9min (min 92, max 150). The average time of the first five surgeries was 122.6min, and, regarding the last five interventions, it was 108.2min. Found medical intraoperative complications were four intraoperative markers loss. Average admission time was 4.4days (min 3, max 7), with an average postoperative hemoglobin decrease of 3.08±1.08g/dL, requiring a transfusion in 12% of the cases. Three medical complications have been registered in the meantime of the admission, with a relevant case of a confusional syndrome and a fall, which resulted in a non-displaced AG1 periprosthetic fracture. The analysis of the positioning of registered implants with Mako® system shows 40.55±1.53 acetabular inclination degrees and 12.2±3.6 acetabular anteversion degrees. The postoperative image study carried out on patients, are consistent with Mako® s results, as it shows an acetabular inclination of 41.2±1.7 in Rx, as well as acetabular anteversion of 16±4.6 in CT. Hip length variance ranges depending on preoperative values of 3.91mm (SD: 3.9; min -12, max 3) to 1.29mm (SD: 1.96) after surgery registered with Mako®, with an increase of an average hip length of 5.64mm (SD: 3.35). Rx simple study results show a postoperative difference between both hips of 0.5±3.08mm, which is consistent with Mako® results. Native femoral offset was stable after surgery with a showing difference both pre and post operative of the intervened hip of 0.1mm (SD: 3.7), registered with Mako®. Preoperatory modified Harris punctuation was 41.6±13.3, improving to postoperative values of 74.6±9.7 after four months since the surgery. No complications were registered in immediate postoperative (4month). Total hip arthroplasty robot-assisted achieves an adequate precision and repeatability of the implant positioning and the postoperative hip dysmetry without showing an increase of associated complications to the technique applied. Surgery time, complications and functional results in a short-time period are similar to conventional techniques applied to great series previously published.

#4

[99m Tc] Tc-MDP bone SPECT/CT diagnosing unstable slipped capital femoral epiphysis with secondary AVN in a patient with misleading knee pain.

Clinical case reports2023 Jul

Bone scan is highly sensitive whole-body imaging with relative low radiation in patients with non-localized skeletal symptoms. Patient is 12-year-old boy with Down syndrome, suffering recent claudication and exacerbated left knee pain unable to walk even with crutches. Three-dimensional Single photon emission computed tomography/Computed tomography (SPECT/CT) detected left slipped capital femoral epiphysis (SCFE) and secondary Avascular necrosis (AVN).

#5

Fixation of anterolateral distal tibial fractures: the anterior malleolus.

Operative Orthopadie und Traumatologie2021 Apr

The anterior tibial rim with the anterolateral tibial tubercle provides attachment to the anterior tibiofibular syndesmosis. It may be considered an anterior or "fourth" malleolus. Fixation of a displaced anterior tibial fragment in the treatment of malleolar fractures aims at providing a bone-to-bone fixation of the anterior tibiofibular ligament and restoring the integrity of the tibial incisura. Displaced intra-articular fragments of the anterior tibia; fractures involving the tibial incisura; fractures with intercalary fragments; impaction of the anterior tibial plafond; syndesmotic avulsions producing instability or preventing reduction of the distal fibula into the tibial incisura. Critical local soft tissues preventing an anterolateral approach; missing consent to surgery by the patient; overall critical general condition preventing surgery to the extremities. Anterolateral approach over the tibial tubercle. Identification and mobilization of the anterior tibial fragment without dissecting the anterior syndesmosis. Reduction of the anterior tibial fragment with a pointed reduction clamp. Fixation of extra-articular avulsion fractures (type 1) with suture anchor. Screw fixation of larger fragments involving the joint surface and incisura (type 2). Disimpaction, realignment of the joint surface, bone grafting as needed and plate fixation of impaction fractures of the anterolateral tibial plafond (type 3). Mobilization with partial weight bearing (15-20 kg) in a special boot (ankle foot orthosis) or cast for 6-8 weeks depending on the overall malleolar fracture pattern, bone quality and patient compliance. Few studies report the results of anterior tibial fractures in adults. Failure to fix displaced fragments frequently leads to nonunions. Overlooked Chaput fractures have been reported to result in malpositioning of the distal fibula in the tibial incisura leading to incongruity of the ankle mortise requiring revision surgery. Secondary avascular necrosis of the anterolateral tibial plafond may develop after joint impaction. OPERATIONSZIEL: Die Tibiavorderkante mit dem Tuberculum anterius tibiae dient als Ansatz für das Lig. tibiofibulare anterius. Sie kann als vorderer oder „vierter“ Knöchel bezeichnet werden. Ziel der Osteosynthese dislozierter Fragmente ist die knöcherne Stabilisierung der vorderen Syndesmose und die Wiederherstellung der Incisura tibiae für die distale Fibula. Dislozierte Gelenkfrakturen der Tibiavorderkante, Frakturen mit Verwerfung der vorderen Tibiainzisur, Frakturen mit Intermediärfragment(en), Impression des vorderen Tibiaplafonds, instabile Avulsionen des Lig. tibiofibulare anterius oder in den Syndesmosenspalt eingeschlagene Fragmente. Kritische Weichteilverhältnisse im Zugangsbereich, Ablehnung der Operation durch den Patienten, kritischer Allgemeinzustand des Patienten. Anterolateraler Zugang über dem Tuberculum anterius tibiae. Identifikation und Mobilisierung des Tibiavorderkantenfragments ohne Dissektion des Lig. tibifibulare anterius. Reposition des Fragments mit einer spitzen Repositionszange. Fixierung extraartikulärer Avulsionsfrakturen mit Nahtanker. Schraubenosteosynthese größerer Fragmente mit Beteiligung der Gelenkfläche und Inzisur. Anhebung, Wiederherstellung der Gelenkfläche, Spongiosaplastik, wenn erforderlich, und anteriore Plattenosteosynthese von Impressionsfrakturen des vorderen Tibiaplafonds. Mobilisation im Verbandsstiefel oder Castverband mit Teilbelastung (15–20 kg) für 6–8 Wochen je nach Frakturmuster, Knochenqualität und Patientencompliance. Nur wenige Studien berichten über Resultate nach der Osteosynthese von Tibiavorderkantenfrakturen bei Erwachsenen. Bei ausbleibender Fixierung dislozierter Fragmente werden Pseudarthrosen beschrieben. Bei der Versorgung von Sprunggelenkfrakturen übersehene Tibiavorderkantenfragmente können zu einer Fehlplatzierung der distalen Fibula in der Incisura fibularis tibiae mit nachfolgender Inkongruenz der Knöchelgabel und der Notwendigkeit von Revisionsoperationen führen. Sekundäre avaskuläre Nekrosen des anterolateralen Tibiaplafonds können nach Impaktionsverletzungen entstehen.

Publicações recentes

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Associações

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Assessment, diagnostic criteria, and outcome measures for non-femoral head lower limb avascular necrosis in children and adolescents: a scoping review.
    JBMR plus· 2025· PMID 40823438mais citado
  2. [Translated article] Clinical results of total hip arthroplasty assisted by robotic arm in Spain: Preliminary study.
    Revista espanola de cirugia ortopedica y traumatologia· 2024· PMID 37992860mais citado
  3. Clinical results of total hip arthroplasty assisted by robotic arm in Spain: Preliminary study.
    Revista espanola de cirugia ortopedica y traumatologia· 2024· PMID 37245634mais citado
  4. [99m Tc] Tc-MDP bone SPECT/CT diagnosing unstable slipped capital femoral epiphysis with secondary AVN in a patient with misleading knee pain.
    Clinical case reports· 2023· PMID 37397570mais citado
  5. Fixation of anterolateral distal tibial fractures: the anterior malleolus.
    Operative Orthopadie und Traumatologie· 2021· PMID 33751133mais citado
  6. Selective Femoral Resurfacing for Bilateral Knee Osteonecrosis: A Bone-Preserving Alternative to Total Knee Arthroplasty.
    Case Rep Orthop· 2026· PMID 41958845recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:399169(Orphanet)
  2. MONDO:0018374(MONDO)
  3. GARD:21659(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q55788011(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Necrose avascular secundária
Compêndio · Raras BR

Necrose avascular secundária

ORPHA:399169 · MONDO:0018374
MedGen
UMLS
C5680036
EuropePMC
Wikidata
Papers 10a
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